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Ronald Wanders

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Wendela P Hoen; Jeroen G Lijmer; Nico J M van Beveren; Ronald J A Wanders; Marinus Duran; Lieuwe de Haan
Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: A meta-analysis.
Sara Violante; Ronald J A Wanders; Lodewijk IJlst; Isabel Tavares de Almeida; Heleen te Brinke; Fátima V Ventura; Sander M Houten
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
Carine De Marcos Lousa; Daniela Dietrich; Ian D Kerr; Vincent Postis; Alison Baker; Stephen A Baldwin; Carlo W T van Roermund; Ronald J A Wanders; Frederica L Theodoulou
Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids.

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2013: Wendela P Hoen; Jeroen G Lijmer; Nico J M van Beveren; Ronald J A Wanders; Marinus Duran; Lieuwe de Haan
Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: A meta-analysis.
Psychiatry research 2013;207(1-2):1-12.
2013: Sara Violante; Ronald J A Wanders; Lodewijk IJlst; Isabel Tavares de Almeida; Heleen te Brinke; Fátima V Ventura; Sander M Houten
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013;27(5):2039-44.
2013: Carine De Marcos Lousa; Daniela Dietrich; Ian D Kerr; Vincent Postis; Alison Baker; Stephen A Baldwin; Carlo W T van Roermund; Ronald J A Wanders; Frederica L Theodoulou
Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(4):1279-84.
2013: Eugène F Diekman; Marinus Duran; Lodewijk IJlst; Berthil H C M T Prinsen; Carolien C A Boelen; Tom J de Koning; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg; Gepke Visser
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
JIMD reports 2013;7():1-6.
2012: Ronald J A Wanders; Sacha Ferdinandusse
Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites.
Current drug metabolism 2012;13(10):1401-11.
2012: Joris Fuijkschot; Marieke M B Seyger; Thomas Theelen; Marinette van der Graaf; Ronald J A Wanders; Hans R Waterham; Ron A Wevers; Imelda J M de Groot; Michèl A A P Willemsen
Sjögren-Larsson syndrome in clinical practice.
Journal of inherited metabolic disease 2012;35(6):955-62.
2012: Marc Engelen; Stéphane Fourcade; Sander M Houten; Rob Ofman; Bwee Tien Poll-The; Aurora Pujol; Robert-Jan Sanders; Martin J A Schackmann; Ronald J A Wanders; Inge M E Dijkstra; Stephan Kemp
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
Journal of inherited metabolic disease 2012;35(6):1137-45.
2012: Michel van Weeghel; Ronald J A Wanders; Charles L Hoppel; Uwe Janssen; Wim Kulik; Paul E Minkler; Jörn Oliver Sass; K Otfried Schwab; Wilhelm Stoffel; Maria S K Stoll; Heleen te Brinke; Henk Van Lenthe; Sander M Houten
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012;26(10):4316-26.
2012: Hans R Waterham; Ronald J A Wanders
Metabolic functions and biogenesis of peroxisomes in health and disease.
Biochimica et biophysica acta 2012;1822(9):1325.
2012: Miranda D Stobbe; Antoine H C van Kampen; Ronald J A Wanders; Sander M Houten; Perry Moerland
Improving the description of metabolic networks: the TCA cycle as example.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012;26(9):3625-36.
2012: Sander M Houten; Yuzhi Jia; Janardan K Reddy; Carmen A Argmann; Simone Denis; Sacha Ferdinandusse; Ronald J A Wanders
Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids.
Journal of lipid research 2012;53(7):1296-303.
2012: Markus A Keller; Karsten Lange; Ronald J A Wanders; Katrin Watschinger; Georg Golderer; Albin Hermetter; Gabriele Werner-Felmayer; Ernst R Werner
Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds.
Journal of lipid research 2012;53(7):1410-6.
2012: Maarten R Soeters; Ronald J A Wanders; Mariëtte T Ackermans; Marinus Duran; Charles L Hoppel; Willem Kulik; Paul E Minkler; Jos P Ruiter; Hans P Sauerwein; Mireille J Serlie; Sander M Houten
Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite.
Metabolism: clinical and experimental 2012;61(7):966-73.
2012: Carlo W T van Roermund; Ronald J A Wanders; Hans R Waterham; Hendrik Folkerts; Lodewijk IJlst; Wiktor Majczak; Klaas J Hellingwerf
Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae.
The Journal of biological chemistry 2012;287(24):20144-53.
2012: Murtada H Farhoud; Antoon J M Janssen; Edwin Lasonder; Leo G J Nijtmans; Richard R J Rodenburg; Lambert P van den Heuvel; Ronald J A Wanders; Hans J C T Wessels; Jan A M Smeitink
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.
Proteomics 2012;12(9):1349-62.
2012: Merel S Ebberink; Johanna M Fock; Stephan Kemp; Janet Koster; G Peter A Smit; Francjan van Spronsen; Irene Stolte-Dijkstra; Gepke Visser; Ronald J A Wanders; Hans R Waterham
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Journal of medical genetics 2012;49(5):307-13.
2012: Noriyuki Kanzawa; Yukio Fujiki; Morihisa Fujita; Kazutaka Ikeda; Yusuke Maeda; Satoru Mukai; Yoshiko Murakami; Nobuyuki Shimozawa; Ryo Taguchi; Ronald J A Wanders; Hans R Waterham; Taroh Kinoshita
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
Journal of lipid research 2012;53(4):653-63.
2012: Michael J Bennett; Kenneth A Pass; Piero Rinaldo; Michael S Watson; Bridget Wilcken; Ronald J A Wanders
Newborn screening for metabolic disorders: how are we doing, and where are we going?
Clinical chemistry 2012;58(2):324-31.
2012: Hugh J McMillan; Petra A W Mooyer; Jeremy Schwartzentruber; Ronald J A Wanders; Thea Worthylake; Dennis E Bulman; Sacha Ferdinandusse; Michael T Geraghty; Chloe C Gottlieb; Sarah E Lawrence; Alex Mackenzie; Jacek Majewski; Chandree L Beaulieu; Kym M Boycott
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Orphanet journal of rare diseases 2012;7():90.
2012: Marc Engelen; Josephine Brennecke; Inge M E Dijkstra; Ann B Moser; Rob Ofman; Bwee Tien Poll-The; Luc Tran; Ronald J A Wanders; Stephan Kemp
Bezafibrate for X-linked adrenoleukodystrophy.
PloS one 2012;7(7):e41013.
2012: Catharina M L Touw; Gepke Visser; Ronald J A Wanders; Hans R Waterham; Annet M Bosch; Johannis B C de Klerk; Maaike de Vries; Bert Elvers; Margot F Mulder; Klary E Niezen-Koning; Dirk-Jan Reijngoud; M Estela Rubio-Gozalbo; G Peter A Smit; Terry G J Derks
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Orphanet journal of rare diseases 2012;7():30.
2011: Ronald J A Wanders; JC Komen; Sacha Ferdinandusse
Phytanic acid metabolism in health and disease.
Biochimica et biophysica acta 2011;1811(9):498-507.
2011: Paolo Ghirri; Andrea Guzzetta; Marco Vuerich; Maria C Bianchi; Antonio Boldrini; Sacha Ferdinandusse; Hans R Waterham; Ronald J A Wanders
A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.
Pediatrics international : official journal of the Japan Pediatric Society 2011;53(4):583-7.
2011: Cátia C P Aires; Isabel Tavares de Almeida; Marinus Duran; Lodewijk IJlst; Arno van Cruchten; Ronald J A Wanders; Margarida F B Silva
New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA.
Journal of hepatology 2011;55(2):426-34.
2011: Paula B M Luís; Al-Walid Mohsen; Jos P N Ruiter; Marinus Duran; Lodewijk IJlst; Isabel Tavares de Almeida; Jerry Vockley; Ronald J A Wanders; Margarida F B Silva
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.
Drug metabolism and disposition: the biological fate of chemicals 2011;39(7):1155-60.
2011: Marco Fidaleo; Ségolène Arnauld; Marie-Claude Clémencet; Grégory Chevillard; Marie-Charlotte Royer; Melina De Bruycker; Ronald J A Wanders; Anne Athias; Joseph Gresti; Pierre Clouet; Pascal Degrace; Sander Kersten; Marc Espeel; Norbert Latruffe; Valérie Nicolas-Francès; Stéphane Mandard
A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver.
Biochimie 2011;93(5):876-91.
2011: Stinne P Schmidt; Thomas J Corydon; Christina Bak Pedersen; Søren Vang; Johan Palmfeldt; Vibeke Stenbroen; Ronald J A Wanders; Jos P N Ruiter; Niels Gregersen
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
Journal of inherited metabolic disease 2011;34(2):465-75.
2011: Johan de Vogel-van den Bosch; Joris Hoeks; Silvie Timmers; Sander M Houten; Paul J van Dijk; Wendy Boon; Denis Van Beurden; Gert Schaart; Sander Kersten; Peter J Voshol; Ronald J A Wanders; Matthijs K C Hesselink; patrick schrauwen
The effects of long- or medium-chain fat diets on glucose tolerance and myocellular content of lipid intermediates in rats.
Obesity (Silver Spring, Md.) 2011;19(4):792-9.
2011: Carlo W T van Roermund; Wouter F Visser; Lodewijk IJlst; Hans R Waterham; Ronald J A Wanders
Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.
Biochimica et biophysica acta 2011;1811(3):148-52.
2011: Ronald J A Wanders; Jasper Komen; Stephan Kemp
Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans.
The FEBS journal 2011;278(2):182-94.
2011: Merel S Ebberink; Petra A W Mooijer; Jeannette Gootjes; Janet Koster; Ronald J A Wanders; Hans R Waterham
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Human mutation 2011;32(1):59-69.
2011: Mike Gerards; Bianca J C van den Bosch; Katharina Danhauser; Valérie Serre; Michel van Weeghel; Ronald J A Wanders; Gerry A F Nicolaes; Wim Sluiter; Kees Schoonderwoerd; Hans R Scholte; Holger Prokisch; Agnès Rötig; I F M de Coo; H J M Smeets
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Brain : a journal of neurology 2011;134(Pt 1):210-9.
2010: Aneal Khan; Xing-Chang Wei; Floyd F Snyder; Jean K Mah; Hans Waterham; Ronald J A Wanders
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
Neuroradiology 2010;52(12):1163-6.
2010: Sabine Grønborg; Ralph Krätzner; Juliane Spiegler; Sacha Ferdinandusse; Ronald J A Wanders; Hans R Waterham; Jutta Gärtner
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.
American journal of medical genetics. Part A 2010;152A(11):2845-9.
2010: Ronald J A Wanders; Jos P N Ruiter; Lodewijk IJlst; Hans R Waterham; Sander M Houten
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
Journal of inherited metabolic disease 2010;33(5):479-94.
2010: Bianca T van Maldegem; Ronald J A Wanders; Frits A Wijburg
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 2010;33(5):507-11.
2010: Sander M Houten; Ronald J A Wanders
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation.
Journal of inherited metabolic disease 2010;33(5):469-77.
2010: Yvonne Nyathi; Carine De Marcos Lousa; Carlo W van Roermund; Ronald J A Wanders; Barbara Johnson; Stephen A Baldwin; Frederica L Theodoulou; Alison Baker
The Arabidopsis peroxisomal ABC transporter, comatose, complements the Saccharomyces cerevisiae pxa1 pxa2Delta mutant for metabolism of long-chain fatty acids and exhibits fatty acyl-CoA-stimulated ATPase activity.
The Journal of biological chemistry 2010;285(39):29892-902.
2010: SB Wortmann; B H Kremer; A Graham; Michèl A A P Willemsen; Ference J Loupatty; S L Hogg; Udo F H Engelke; L A Kluijtmans; Ronald J A Wanders; S Illsinger; B Wilcken; J R M Cruysberg; A M Das; Eva Morava; Ron A Wevers
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
Neurology 2010;75(12):1079-83.
2010: Sarar Mohamed; Ebtisam El-Meleagy; Abdelhaleem Nasr; Merel S Ebberink; Ronald J A Wanders; Hans R Waterham
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.
American journal of medical genetics. Part A 2010;152A(9):2318-21.
2010: Merel S Ebberink; Barbara Csanyi; Wui K Chong; Simone Denis; Peter Sharp; Petra A W Mooijer; Conny J M Dekker; Claire Spooner; Lock H Ngu; Carlos De Sousa; Ronald J A Wanders; Michael J Fietz; Peter T Clayton; Hans R Waterham; Sacha Ferdinandusse
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Journal of medical genetics 2010;47(9):608-15.
2010: Luc Régal; Merel S Ebberink; Nathalie Goemans; Ronald J A Wanders; Linda De Meirleir; Jacques Jaeken; Maarten Schrooten; Rudy Van Coster; Hans R Waterham
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Annals of neurology 2010;68(2):259-63.
2010: Johan L K Van Hove; Margarita S Saenz; Janet A Thomas; Renata C Gallagher; Mark A Lovell; Laura Z Fenton; Sarah Shanske; Sommer M Myers; Ronald J A Wanders; Jos Ruiter; Marjolein Turkenburg; Hans R Waterham
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Pediatric research 2010;68(2):159-64.
2010: Christina Bak Pedersen; Zarazuela Zolkipli; Søren Vang; Johan Palmfeldt; Margrethe Kjeldsen; Vibeke Stenbroen; Stinne P Schmidt; Ronald J A Wanders; Jos P N Ruiter; Flemming Wibrand; Ingrid Tein; Niels Gregersen
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
Journal of inherited metabolic disease 2010;33(3):211-22.
2010: Markus A Keller; Katrin Watschinger; Georg Golderer; Manuel Maglione; Bettina Sarg; Herbert H Lindner; Gabriele Werner-Felmayer; Alessandro Terrinoni; Ronald J A Wanders; Ernst R Werner
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.
Journal of lipid research 2010;51(6):1554-9.
2010: Toshiyuki Fukao; Hoan Thi Nguyen; Nhan Thu Nguyen; Dung Chi Vu; Ngoc Thi Bich Can; Anh Thi Van Pham; Khanh Ngoc Nguyen; Hironori Kobayashi; Yuki Hasegawa; Thao Phuong Bui; Kary E Niezen-Koning; Ronald J A Wanders; Tom de Koning; Liem Thanh Nguyen; Seiji Yamaguchi; Naomi Kondo
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Molecular genetics and metabolism 2010;100(1):37-41.
2010: Sacha Ferdinandusse; Simon Barker; Katherine Lachlan; Marinus Duran; Hans R Waterham; Ronald J A Wanders; Simon Hammans
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.
Journal of neurology, neurosurgery, and psychiatry 2010;81(3):310-2.
2010: Rob Ofman; Inge M E Dijkstra; Carlo W T van Roermund; Nena Burger; Marjolein Turkenburg; Arno van Cruchten; Catherine E van Engen; Ronald J A Wanders; Stephan Kemp
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
EMBO molecular medicine 2010;2(3):90-7.
2010: Bianca T van Maldegem; Marinus Duran; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
Pediatric research 2010;67(3):304-8.
2010: Cátia C P Aires; Lodewijk IJlst; Femke Stet; Carina Prip-Buus; Isabel Tavares de Almeida; Marinus Duran; Ronald J A Wanders; Margarida F B Silva
Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis.
Biochemical pharmacology 2010;79(5):792-9.
2010: Katharina Rauschenberger; Katja Schöler; Jörn Oliver Sass; Sven Sauer; Zdenka Djuric; Cordula Rumig; Nicole I Wolf; Jürgen G Okun; Stefan Kölker; Heinz Schwarz; Christine Fischer; Beate Grziwa; Heiko Runz; Astrid Nümann; Naeem Shafqat; Kathryn L Kavanagh; Günter Hämmerling; Ronald J A Wanders; Julian P H Shield; Udo Wendel; David Stern; Peter Nawroth; Georg F Hoffmann; Claus R Bartram; Bernd Arnold; Angelika Bierhaus; Udo Oppermann; Herbert Steinbeisser; Johannes Zschocke
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
EMBO molecular medicine 2010;2(2):51-62.
2010: Marc Engelen; Rob Ofman; Marcel GW Dijkgraaf; Michiel Hijzen; Lucinda A van der Wardt; Bjorn M Van Geel; Marianne de Visser; Ronald J A Wanders; Bwee Tien Poll-The; Stephan Kemp
Lovastatin in X-linked adrenoleukodystrophy.
The New England journal of medicine 2010;362(3):276-7.
2010: Rodi Zutt; Anneke J van der Kooi; Gabor E Linthorst; Ronald J A Wanders; Jan J G M Verschuuren; Marianne de Visser
[Recurrent rhabdomyolysis: screening for underlying disease].
Nederlands tijdschrift voor geneeskunde 2010;154():A2290.
2010: Merel S Ebberink; Janet Kofster; Ronald J A Wanders; Hans R Waterham
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Human mutation 2010;31(1):E1058-70.
2010: Bianca T van Maldegem; Marinus Duran; Ronald J A Wanders; Hans R Waterham; Tom J de Koning; Estela Rubio; Frits A Wijburg
Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.
The Journal of pediatrics 2010;156(1):121-7.
2009: Janina Hantke; David Chandler; Rosalind King; Ronald J A Wanders; Dora Angelicheva; Ivailo Tournev; Elyshia McNamara; Marcel Kwa; Velina Guergueltcheva; RAdka Kaneva; Frank Baas; Luba Kalaydjieva
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
European journal of human genetics : EJHG 2009;17(12):1606-14.
2009: Sacha Ferdinandusse; Simone Denis; Phyllis L Faust; Ronald J A Wanders
Bile acids: the role of peroxisomes.
Journal of lipid research 2009;50(11):2139-47.
2009: Roel Nijland; Francis E Hartog; Ron A Wevers; Ronald J A Wanders; Wim N P Willemsen
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
Journal of pediatric and adolescent gynecology 2009;22(4):229-31.
2009: Malika Chegary; Heleen te Brinke; Jos P N Ruiter; Frits A Wijburg; Maria S K Stoll; Paul E Minkler; Michel van Weeghel; Horst Schulz; Charles L Hoppel; Ronald J A Wanders; Sander M Houten
Mitochondrial long chain fatty acid beta-oxidation in man and mouse.
Biochimica et biophysica acta 2009;1791(8):806-15.
2009: Karin Strijbis; Carlo W T van Roermund; Guy P Hardy; Janny van den Burg; Karien Bloem; Jolanda de Haan; Naomi van Vlies; Ronald J A Wanders; Frédéric M Vaz; Ben Distel
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009;23(8):2349-59.
2009: Lap-Kay Law; Nelson L S Tang; Joannie Hui; Simon L M Fung; Jos Ruiter; Ronald J A Wanders; Tai Fai Fok; Christopher W K Lam
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Clinica chimica acta; international journal of clinical chemistry 2009;404(2):95-9.
2009: Oded Scheuerman; Ronald J A Wanders; Hans R Waterham; Gal Dubnov-Raz; Ben-Zion Garty
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
Pediatric neurology 2009;40(6):465-7.
2009: Cheryl R Greenberg; LA Dilling; G Robert Thompson; LORNE SEARGEANT; James C Haworth; Susan Phillips; Alicia Chan; Hilary D Vallance; Paula J Waters; Graham Sinclair; Yolanda Lillquist; Ronald J A Wanders; Simon E Olpin
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
Molecular genetics and metabolism 2009;96(4):201-7.
2009: Sacha Ferdinandusse; Simone Denis; Georges Dacremont; Ronald J A Wanders
Toxicity of peroxisomal C27-bile acid intermediates.
Molecular genetics and metabolism 2009;96(3):121-8.
2009: Robert-Jan Sanders; Rob Ofman; Conny Dekker; Stephan Kemp; Ronald J A Wanders
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2009;877(4):451-5.
2009: Pedro Brites; Petra A W Mooyer; Leila El Mrabet; Hans R Waterham; Ronald J A Wanders
Plasmalogens participate in very-long-chain fatty acid-induced pathology.
Brain : a journal of neurology 2009;132(Pt 2):482-92.
2009: Sian A Thompson; Ronald J A Wanders; Jacqui Calvin; Sacha Ferdinandusse; Sarah Hogg; Roger A Barker
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency.
BMJ case reports 2009;2009():.
2009: Stéphane Fourcade; Montserrat Ruiz; Carme Camps; Agatha Schlüter; Sander M Houten; Petra A W Mooyer; Teresa Pàmpols; Georges Dacremont; Ronald J A Wanders; Marisa Giròs; Aurora Pujol
A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.
American journal of physiology. Endocrinology and metabolism 2009;296(1):E211-21.
2009: Merel S Ebberink; Petra A W Mooyer; Janet Koster; Conny Dekker; François J M Eyskens; Carlo Dionisi Vici; Peter T Clayton; Peter G Barth; Ronald J A Wanders; Hans R Waterham
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
Human mutation 2009;30(1):93-8.
2008: Carlo W T van Roermund; Wouter Visser; Lodewijk IJlst; Arno van Cruchten; Maxim Boek; Wim Kulik; Hans R Waterham; Ronald J A Wanders
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(12):4201-8.
2008: Sacha Ferdinandusse; Anna W M Zomer; Jasper C Komen; Stieneke van den Brink; Melissa Thanos; Frank P T Hamers; Ronald J A Wanders; Paul T van der Saag; Bwee Tien Poll-The; Pedro Brites
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(46):17712-7.
2008: Francois Gonzalvez; Zachary T Schug; Riekelt H Houtkooper; Elaine D MacKenzie; David G Brooks; Ronald J A Wanders; Patrice X. PETIT; Frédéric M Vaz; Eyal Gottlieb
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.
The Journal of cell biology 2008;183(4):681-96.
2008: Sabine Illsinger; Thomas Lücke; Michael Peter; Jos P N Ruiter; Ronald J A Wanders; Marcus Deschauer; Ingrid Handig; Wim Wuyts; Anibh M Das
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.
American journal of medical genetics. Part A 2008;146A(22):2925-8.
2008: Henk M De Feyter; Ellen Lenaers; Sander M Houten; patrick schrauwen; Matthijs K C Hesselink; Ronald J A Wanders; Klaas Nicolay; Jeanine J Prompers
Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(11):3947-55.
2008: Cátia C P Aires; Graça Soveral; Paula B M Luís; Herman J Ten Brink; Isabel Tavares de Almeida; Marinus Duran; Ronald J A Wanders; Margarida F B Silva
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes.
FEBS letters 2008;582(23-24):3359-66.
2008: Rosalba Carrozzo; Carlo Bellini; Simona Lucioli; Federica Deodato; Denise Cassandrini; Michela Cassanello; Ubaldo Caruso; Cristiano Rizzo; Teresa Rizza; Matteo L Napolitano; Ronald J A Wanders; Cornelis Jakobs; Claudio Bruno; Filippo M Santorelli; Carlo Dionisi Vici; Eugenio Bonioli
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
American journal of medical genetics. Part A 2008;146A(13):1676-81.
2008: Robert-Jan Sanders; Rob Ofman; Georges Dacremont; Ronald J A Wanders; Stephan Kemp
Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(6):2064-71.
2008: Malika Chegary; Heleen te Brinke; Mirjam Doolaard; Lodewijk IJlst; Frits A Wijburg; Ronald J A Wanders; Sander M Houten
Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
Molecular genetics and metabolism 2008;93(4):403-10.
2007: Sebastian Wiese; Thomas Gronemeyer; Rob Ofman; Markus Kunze; Cláudia P Grou; José A Almeida; Martin Eisenacher; Christian Stephan; Heiko Hayen; Lukas Schollenberger; Thomas Korosec; Hans R Waterham; Wolfgang Schliebs; Ralf Erdmann; Johannes Berger; Helmut E Meyer; Wilhelm Just; Jorge E Azevedo; Ronald J A Wanders; Bettina Warscheid
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling.
Molecular & cellular proteomics : MCP 2007;6(12):2045-57.
2007: Naomi van Vlies; Rob Ofman; Ronald J A Wanders; Frédéric M Vaz
Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis.
The FEBS journal 2007;274(22):5845-51.
2007: Matthew D Lloyd; Kieren D E Boardman; Andrew Smith; Daan M van den Brink; Ronald J A Wanders; Michael Threadgill
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
Journal of enzyme inhibition and medicinal chemistry 2007;22(5):584-90.
2007: Didem Aliefendioğlu; Ali Dursun; Turgay Coşkun; Zuhal Akçören; Ronald J A Wanders; Hans R Waterham
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.
European journal of pediatrics 2007;166(10):1077-80.
2007: Claire L S Turner; David J Bunyan; N Simon Thomas; Deborah J G Mackay; Huw P Jones; Hans R Waterham; Ronald J A Wanders; I Karen Temple
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
American journal of medical genetics. Part A 2007;143A(18):2172-7.
2007: Paula B M Luís; Jos P N Ruiter; Cátia C P Aires; Graça Soveral; Isabel Tavares de Almeida; Marinus Duran; Ronald J A Wanders; Margarida F B Silva
Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation.
Biochimica et biophysica acta 2007;1767(9):1126-33.
2007: Naomi van Vlies; Sacha Ferdinandusse; Marjolein Turkenburg; Ronald J A Wanders; Frédéric M Vaz
PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation.
Biochimica et biophysica acta 2007;1767(9):1134-42.
2007: Sacha Ferdinandusse; Simone Denis; Eveline M Hogenhout; Jan Koster; Carlo W T van Roermund; Lodewijk IJlst; Ann B Moser; Ronald J A Wanders; Hans R Waterham
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Human mutation 2007;28(9):904-12.
2007: Christiaan S van Woerden; Jaap W Groothoff; Frits A Wijburg; Hans R Waterham; Ronald J A Wanders; Marcel J W Janssen; Marinus Duran
Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis.
Clinical chemistry 2007;53(8):1553-5.
2007: Lap-Kay Law; Nelson Tang; Joannie Hui; Chung-Shun Ho; Jos Ruiter; Tai Fai Fok; Ronald J A Wanders; Christopher Wai-Kei Lam
A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2007;382(1-2):25-30.
2007: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Hans R Waterham; Ronald J A Wanders
Demonstration of bile acid transport across the mammalian peroxisomal membrane.
Biochemical and biophysical research communications 2007;357(2):335-40.
2007: Andrew J Carnell; Ian Hale; Simone Denis; Ronald J A Wanders; William B Isaacs; Brice A Wilson; Sacha Ferdinandusse
Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors.
Journal of medicinal chemistry 2007;50(11):2700-7.
2007: Hans R Waterham; Jan Koster; Carlo W T van Roermund; Petra A W Mooyer; Ronald J A Wanders; James V Leonard
A lethal defect of mitochondrial and peroxisomal fission.
The New England journal of medicine 2007;356(17):1736-41.
2007: Megan H Keane; Henk Overmars; Thomas M Wikander; Sacha Ferdinandusse; Marinus Duran; Ronald J A Wanders; Phyllis L Faust
Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice.
Hepatology (Baltimore, Md.) 2007;45(4):982-97.
2007: Cátia C P Aires; Jos P N Ruiter; Paula B M Luís; Herman J Ten Brink; Lodewijk IJlst; Isabel Tavares de Almeida; Marinus Duran; Ronald J A Wanders; Margarida F B Silva
Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acids.
Biochimica et biophysica acta 2007;1771(4):533-43.
2007: Satomi Sakurai; Toshiyuki Fukao; Antti M Haapalainen; Gaixiu Zhang; Keitaro Yamada; Franco Lilliu; Shoji Yano; Peter Robinson; Michael K Gibson; Ronald J A Wanders; Grant A Mitchell; Rik K Wierenga; Naomi Kondo
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Molecular genetics and metabolism 2007;90(4):370-8.
2007: Keitaro Yamada; Toshiyuki Fukao; Gaixiu Zhang; Satomi Sakurai; Jos P N Ruiter; Ronald J A Wanders; Naomi Kondo
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Molecular genetics and metabolism 2007;90(3):291-7.
2007: Stephan Kemp; Ronald J A Wanders
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
Molecular genetics and metabolism 2007;90(3):268-76.
2007: Claus Lenski; R Frank Kooy; Edwin Reyniers; Daniela Loessner; Ronald J A Wanders; Birgitta Winnepenninckx; Heide Hellebrand; Stefanie Engert; Charles E Schwartz; Alfons Meindl; Juliane Ramser
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
American journal of human genetics 2007;80(2):372-7.
2007: Ronald J A Wanders; Wouter Visser; Carlo W T van Roermund; Stephan Kemp; Hans R Waterham
The peroxisomal ABC transporter family.
Pflügers Archiv : European journal of physiology 2007;453(5):719-34.
2007: Fátima V Ventura; Isabel Tavares de Almeida; Ronald J A Wanders
Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A beta-oxidation intermediates.
Biochemical and biophysical research communications 2007;352(4):873-8.
2007: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Hans R Waterham; Ronald J A Wanders
Metabolite transport across the peroxisomal membrane.
The Biochemical journal 2007;401(2):365-75.
2007: Avraham Zeharia; Merel S Ebberink; Ronald J A Wanders; Hans R Waterham; Alisa Gutman; Andreea Nissenkorn; Stanley H Korman
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Journal of human genetics 2007;52(7):599-606.
2007: Ference J Loupatty; Peter T Clayton; Jos P N Ruiter; Rob Ofman; Lodewijk IJlst; Garry K Brown; David R Thorburn; Robert Harris; Marinus Duran; Carlos Desousa; Steve Krywawych; Simon J R Heales; Ronald J A Wanders
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
American journal of human genetics 2007;80(1):195-9.
2007: Agatha Schlüter; Stéphane Fourcade; Enric Domènech-Estévez; Toni Gabaldón; Jaime Huerta-Cepas; Guillaume Berthommier; Raymond Ripp; Ronald J A Wanders; Olivier Poch; Aurora Pujol
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.
Nucleic acids research 2007;35(Database issue):D815-22.
2007: L K Law; Nelson Tang; C W K Lam; Matthew K H Tong; Tony W L Mak; W M Zhang; Ronald J A Wanders
Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency.
Clinica chimica acta; international journal of clinical chemistry 2007;375(1-2):173-4.
2007: Naomi van Vlies; Jos P N Ruiter; Mirjam Doolaard; Ronald J A Wanders; Frédéric M Vaz
An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.
Molecular genetics and metabolism 2007;90(1):24-9.
2006: Jantine van Baal; Sander H Diks; Ronald J A Wanders; Agnieszka M Rygiel; Francesca Milano; Jos Joore; Jacques J G H M Bergman; Maikel Peppelenbosch; Kausilia K Krishnadath
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia.
Cancer research 2006;66(24):11605-12.
2006: Ronald J A Wanders; Hans R Waterham
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
Biochimica et biophysica acta 2006;1763(12):1707-20.
2006: Gerbert Jansen; Ronald J A Wanders
Alpha-oxidation.
Biochimica et biophysica acta 2006;1763(12):1403-12.
2006: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Klaas J Hellingwerf; Hans R Waterham; Ronald J A Wanders
First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization.
Biochemical and biophysical research communications 2006;348(4):1224-31.
2006: Michael Linnebank; Alexander Semmler; Wim J Kleijer; Marianne L T van der Sterre; Jutta Gärtner; Klaus Fliessbach; Piotr Sokolowski; Wolfgang Köhler; Uwe Schlegel; Thomas Klockgether; Ronald J A Wanders; Stephan Schmidt; Ullrich Wüllner; Stephan Kemp
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Human mutation 2006;27(10):1063-4.
2006: Michaela Liebig; Ina Schymik; Martina Mueller; Udo Wendel; Ertan Mayatepek; Jos P N Ruiter; Arnold W Strauss; Ronald J A Wanders; Ute Spiekerkoetter
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
Pediatrics 2006;118(3):1065-9.
2006: Christina Bak Pedersen; Claus Bischoff; Ernst Christensen; Henrik Simonsen; Allan M Lund; Sarah P Young; Dwight D Koeberl; David S Millington; Charles R Roe; Diane S Roe; Ronald J A Wanders; Jos P N Ruiter; Laura D Keppen; Quinn Stein; Inga Knudsen; Niels Gregersen; Brage S Andresen
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
Pediatric research 2006;60(3):315-20.
2006: Bianca T van Maldegem; Marinus Duran; Ronald J A Wanders; Klary E Niezen-Koning; Marije Hogeveen; Lodewijk IJlst; Hans R Waterham; Frits A Wijburg
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
JAMA : the journal of the American Medical Association 2006;296(8):943-52.
2006: Gabriella Di Rosa; Federica Deodato; Ference J Loupatty; Cristiano Rizzo; Rosalba Carrozzo; Filippo M Santorelli; Sara Boenzi; Adele D'Amico; Giulia Tozzi; Enrico Bertini; Andrea Maiorana; Ronald J A Wanders; Carlo Dionisi Vici
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Journal of inherited metabolic disease 2006;29(4):546-50.
2006: Christiaan S van Woerden; Jaap W Groothoff; Frits A Wijburg; Marinus Duran; Ronald J A Wanders; Peter G Barth; Bwee Tien Poll-The
High incidence of hyperoxaluria in generalized peroxisomal disorders.
Molecular genetics and metabolism 2006;88(4):346-50.
2006: Ina Schymik; Michaela Liebig; Martina Mueller; Udo Wendel; Ertan Mayatepek; Arnold W Strauss; Ronald J A Wanders; Ute Spiekerkoetter
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
The Journal of pediatrics 2006;149(1):128-30.
2006: Marit S Schneiders; Sander M Houten; Marjolein Turkenburg; Ronald J A Wanders; Hans R Waterham
Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency.
Arthritis and rheumatism 2006;54(7):2306-13.
2006: Naomi van Vlies; Ronald J A Wanders; Frédéric M Vaz
Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat.
Analytical biochemistry 2006;354(1):132-9.
2006: Victoria I Bunik; Günter Raddatz; Ronald J A Wanders; Georg Reiser
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid.
FEBS letters 2006;580(14):3551-7.
2006: Eveline C Timmermans; Pablo Tebas; Jos P N Ruiter; Ronald J A Wanders; Anthony de Ronde; Michel P De Baar
Real-time nucleic acid sequence-based amplification assay to quantify changes in mitochondrial DNA concentrations in cell cultures and blood cells from HIV-infected patients receiving antiviral therapy.
Clinical chemistry 2006;52(6):979-87.
2006: Riekelt H Houtkooper; Hana Akbari; Henk Van Lenthe; Willem Kulik; Ronald J A Wanders; Margrit Frentzen; Frédéric M Vaz
Identification and characterization of human cardiolipin synthase.
FEBS letters 2006;580(13):3059-64.
2006: Robert-Jan Sanders; Rob Ofman; Marinus Duran; Stephan Kemp; Ronald J A Wanders
Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy.
The Journal of biological chemistry 2006;281(19):13180-7.
2006: Udo F H Engelke; Berry Kremer; Leo A J Kluijtmans; Marinette van der Graaf; Eva Morava; Ference J Loupatty; Ronald J A Wanders; Detlef Moskau; Sandra Loss; Erik van den Bergh; Ron A Wevers
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.
NMR in biomedicine 2006;19(2):271-8.
2006: Fabien Gueugnon; Natalia Volodina; Jaoued Et Taouil; Tatiana E Lopez; Catherine Gondcaille; Anabelle Sequeira-Le Grand; Petra A W Mooijer; Stephan Kemp; Ronald J A Wanders; Stéphane Savary
A novel cell model to study the function of the adrenoleukodystrophy-related protein.
Biochemical and biophysical research communications 2006;341(1):150-7.
2006: Ference J Loupatty; Annemarie van der Steen; Lodewijk IJlst; Jos P N Ruiter; Rob Ofman; Matthias R Baumgartner; Diana Ballhausen; Seiji Yamaguchi; Marinus Duran; Ronald J A Wanders
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Molecular genetics and metabolism 2006;87(3):243-8.
2006: Anibh M Das; Sabine Illsinger; Thomas Lücke; Hans Hartmann; Jos P N Ruiter; Ulrike Steuerwald; Hans R Waterham; Marinus Duran; Ronald J A Wanders
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
Clinical chemistry 2006;52(3):530-4.
2006: Nadia A Oey; Jos P N Ruiter; Tania Attié-Bitach; Lodewijk IJlst; Ronald J A Wanders; Frits A Wijburg
Fatty acid oxidation in the human fetus: implications for fetal and adult disease.
Journal of inherited metabolic disease 2006;29(1):71-5.
2006: Motti Haimi; Ronit Elhasid; Ruth Gershoni-Baruch; Shai Izraeli; Ronald J A Wanders; Hanna Mandel
Myeloid dysplasia in familial 3-methylglutaconic aciduria.
Journal of pediatric hematology/oncology 2006;28(2):69-72.
2006: Pia Pinholt Madsen; Maria Kibaek; Xavier Roca; Ravi Sachidanandam; Adrian R Krainer; Ernst Christensen; Robert D Steiner; K Michael Gibson; Thomas J Corydon; Inga Knudsen; Ronald J A Wanders; Jos P N Ruiter; Niels Gregersen; Brage S Andresen
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Human genetics 2006;118(6):680-90.
2006: Rob Ofman; Dave Speijer; René Leen; Ronald J A Wanders
Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity.
The Biochemical journal 2006;393(Pt 2):537-43.
2006: Ronald J A Wanders; Hans R Waterham
Biochemistry of mammalian peroxisomes revisited.
Annual review of biochemistry 2006;75():295-332.
2006: Sacha Ferdinandusse; Mari S Ylianttila; Jolein Gloerich; M Kristian Koski; Wendy Oostheim; Hans R Waterham; J Kalervo Hiltunen; Ronald J A Wanders; Tuomo Glumoff
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
American journal of human genetics 2006;78(1):112-24.
2006: Sacha Ferdinandusse; Simone Denis; Petra A W Mooyer; Conny Dekker; Marinus Duran; Roelineke J Soorani-Lunsing; Eugen Boltshauser; Alfons Macaya; Jutta Gärtner; Charles B L M Majoie; Peter G Barth; Ronald J A Wanders; Bwee Tien Poll-The
Clinical and biochemical spectrum of D-bifunctional protein deficiency.
Annals of neurology 2006;59(1):92-104.
2005: Yoshinori Kashiwayama; Kota Asahina; Hiroyuki Shibata; Masashi Morita; Ania C Muntau; Adelbert A Roscher; Ronald J A Wanders; Nobuyuki Shimozawa; Masao Sakaguchi; Hiroaki Kato; Tsuneo Imanaka
Role of Pex19p in the targeting of PMP70 to peroxisome.
Biochimica et biophysica acta 2005;1746(2):116-28.
2005: Isidro Ferrer; Josef P Kapfhammer; Colette Hindelang; Stephan Kemp; Nathalie Troffer-Charlier; Vania Broccoli; Noëlle Callyzot; Petra A W Mooyer; Jacqueline Selhorst; Peter Vreken; Ronald J A Wanders; Jean-Louis Mandel; Aurora Pujol
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
Human molecular genetics 2005;14(23):3565-77.
2005: András N Spaan; Lodewijk IJlst; Carlo W T van Roermund; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism 2005;86(4):441-7.
2005: Stanley H Korman; Hans R Waterham; Alisa Gutman; Cornelis Jakobs; Ronald J A Wanders
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Molecular genetics and metabolism 2005;86(3):337-43.
2005: Celia Perez-Cerda; Judit García-Villoria; Rob Ofman; Pedro Ruiz Sala; Begoña Merinero; Julio Ramos; Maria Teresa García-Silva; Beatriz Beseler; Jaime Dalmau; Ronald J A Wanders; Magdalena Ugarte; Antonia Ribes
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Pediatric research 2005;58(3):488-91.
2005: Jlenia Monfregola; Armando Cevenini; Antonio Terracciano; Naomi van Vlies; Salvatore Arbucci; Ronald J A Wanders; Michele D'Urso; Frédéric M Vaz; Matilde Valeria Ursini
Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.
Journal of cellular physiology 2005;204(3):839-47.
2005: Kazuyuki Hashimoto; Zenichiro Kato; Tomoko Nagase; Nobuyuki Shimozawa; Kazuo Kuwata; Kentaro Omoya; Ailian Li; Eiji Matsukuma; Yutaka Yamamoto; Hidenori Ohnishi; Hidehito Tochio; Masahiro Shirakawa; Yasuyuki Suzuki; Ronald J A Wanders; Naomi Kondo
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.
Pediatric research 2005;58(2):263-9.
2005: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Klaas J Hellingwerf; Ronald J A Wanders; Hans R Waterham
Demonstration and characterization of phosphate transport in mammalian peroxisomes.
The Biochemical journal 2005;389(Pt 3):717-22.
2005: Daan M van den Brink; Joram N I van Miert; Georges Dacremont; Jean-François Rontani; Ronald J A Wanders
Characterization of the final step in the conversion of phytol into phytanic acid.
The Journal of biological chemistry 2005;280(29):26838-44.
2005: Clara D M van Karnebeek; Frederike Y Scheper; N G G M Abeling; Marielle Alders; Peter G Barth; Jan M N Hoovers; Cindy Koevoets; Ronald J A Wanders; Raoul Hennekam
Etiology of mental retardation in children referred to a tertiary care center: a prospective study.
American journal of mental retardation : AJMR 2005;110(4):253-67.
2005: Nadia A Oey; Lodewijk IJlst; Carlo W T van Roermund; Frits A Wijburg; Ronald J A Wanders
dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.
Molecular genetics and metabolism 2005;85(2):121-4.
2005: Johannes Sander; Stefanie Sander; Ulrike Steuerwald; Nils Janzen; Michael Peter; Ronald J A Wanders; Iris Marquardt; Georg Christoph Korenke; Anibh M Das
Neonatal screening for defects of the mitochondrial trifunctional protein.
Molecular genetics and metabolism 2005;85(2):108-14.
2005: Nadia A Oey; Margarethe E J den Boer; Frits A Wijburg; Michel Vekemans; Joëlle Augé; Céline Steiner; Ronald J A Wanders; Hans R Waterham; Jos P N Ruiter; Tania Attié-Bitach
Long-chain fatty acid oxidation during early human development.
Pediatric research 2005;57(6):755-9.
2005: Fredoen Valianpour; Voula Mitsakos; Dimitri Schlemmer; Jeffrey A Towbin; Juliet M Taylor; Paul G Ekert; David R Thorburn; Arnold Munnich; Ronald J A Wanders; Peter G Barth; Frédéric M Vaz
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.
Journal of lipid research 2005;46(6):1182-95.
2005: Sacha Ferdinandusse; Simone Denis; Henk Overmars; Lisbeth Van Eeckhoudt; Paul P Van Veldhoven; Marinus Duran; Ronald J A Wanders; Myriam Baes
Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice.
The Journal of biological chemistry 2005;280(19):18658-66.
2005: Yaacov Frishberg; Choni Rinat; Adel Shalata; Ihab Khatib; Sofia Feinstein; Rachel Becker-Cohen; Irit Weismann; Ronald J A Wanders; Gill Rumsby; Frank Roels; Hanna Mandel
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
American journal of nephrology 2005;25(3):269-75.
2005: Annet M Bosch; Lodewijk IJlst; Wendy Oostheim; Joyce Mulders; Henk D Bakker; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham
Identification of novel mutations in classical galactosemia.
Human mutation 2005;25(5):502.
2005: Robert-Jan Sanders; Rob Ofman; Fredoen Valianpour; Stephan Kemp; Ronald J A Wanders
Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes.
Journal of lipid research 2005;46(5):1001-8.
2005: Naomi van Vlies; Liqun Tian; Henk Overmars; Albert H Bootsma; Willem Kulik; Ronald J A Wanders; Philip A Wood; Frédéric M Vaz
Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse.
The Biochemical journal 2005;387(Pt 1):185-93.
2005: Stephan Kemp; Fredoen Valianpour; Simone Denis; Rob Ofman; Robert-Jan Sanders; Petra A W Mooyer; Peter G Barth; Ronald J A Wanders
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.
Molecular genetics and metabolism 2005;84(2):144-51.
2005: Roelineke J Soorani-Lunsing; Francjan J van Spronsen; I Stolte-Dijkstra; Ronald J A Wanders; Sacha Ferdinandusse; H R Waterham; Bwee Tien Poll-The; Jan Peter Rake
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.
Journal of inherited metabolic disease 2005;28(6):1172-4.
2005: Daan M van den Brink; Joram M van Miert; Ronald J A Wanders
Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation.
Clinical chemistry 2005;51(1):240-2.
2004: Meral Topçu; Florence Jobard; Sophie Halliez; Turgay Coskun; Cengiz Yalçinkayal; Filiz Ozbas Gerceker; Ronald J A Wanders; Jean-François Prud'homme; Mark Lathrop; Meral Ozguc; Judith Fischer
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Human molecular genetics 2004;13(22):2803-11.
2004: Felix Bischof; Thomas Nägele; Ronald J A Wanders; Friedrich K Trefz; Arthur Melms
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
Annals of neurology 2004;56(5):727-30.
2004: Margarida F B Silva; Lodewijk IJlst; Paul Allers; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria.
Drug metabolism and disposition: the biological fate of chemicals 2004;32(11):1304-10.
2004: Lining Ma; Frédéric M Vaz; Zhiming Gu; Ronald J A Wanders; Miriam L. Greenberg
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome.
The Journal of biological chemistry 2004;279(43):44394-9.
2004: Stephan Kemp; Fredoen Valianpour; Petra A W Mooyer; Willem Kulik; Ronald J A Wanders
Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid.
Clinical chemistry 2004;50(10):1824-6.
2004: Carlo W T van Roermund; Mark de Jong; Lodewijk IJlst; Jan van Marle; Tobias B Dansen; Ronald J A Wanders; Hans R Waterham
The peroxisomal lumen in Saccharomyces cerevisiae is alkaline.
Journal of cell science 2004;117(Pt 18):4231-7.
2004: Helen M Michelakakis; Dimitrios I Zafeiriou; Marina S Moraitou; Jeannette Gootjes; Ronald J A Wanders
PEX1 deficiency presenting as Leber congenital amaurosis.
Pediatric neurology 2004;31(2):146-9.
2004: Christiaan S van Woerden; Jaap W Groothoff; Frits A Wijburg; Carla Annink; Ronald J A Wanders; Hans R Waterham
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
Kidney international 2004;66(2):746-52.
2004: Jeannette Gootjes; Frank Schmohl; Petra A W Mooijer; Conny Dekker; Hanna Mandel; Meral Topcu; Martina Huemer; M Von Schütz; Thorsten Marquardt; Jan A M Smeitink; Hans R Waterham; Ronald J A Wanders
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
Human mutation 2004;24(2):130-9.
2004: Ference J Loupatty; Jos P N Ruiter; Lodewijk IJlst; Marinus Duran; Ronald J A Wanders
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
Clinical chemistry 2004;50(8):1447-50.
2004: Ertan Mayatepek; Sacha Ferdinandusse; Thomas Meissner; Ronald J A Wanders
Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects.
Clinica chimica acta; international journal of clinical chemistry 2004;345(1-2):89-92.
2004: Nobuyuki Shimozawa; Toshiro Tsukamoto; Tomoko Nagase; Yasuhiko Takemoto; Naoki Koyama; Yasuyuki Suzuki; Masayuki Komori; Takashi Osumi; Gootjes Jeannette; Ronald J A Wanders; Naomi Kondo
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
Human mutation 2004;23(6):552-8.
2004: Sacha Ferdinandusse; Simone Denis; Carlo W T van Roermund; Ronald J A Wanders; Georges Dacremont
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids.
Journal of lipid research 2004;45(6):1104-11.
2004: Renske S Rijlaarsdam; Francjan J van Spronsen; Margreet Th E Bink-Boelkens; Dirk-Jan Reijngoud; Ronald J A Wanders; Klary E Niezen-Koning; Fjodor H van der Sluijs; Bert Dorland; Gertie C M Beaufort-Krol
Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.
Pacing and clinical electrophysiology : PACE 2004;27(5):675-6.
2004: Daan M van den Brink; Joram N I van Miert; Georges Dacremont; Jean-François Rontani; Gerbert Jansen; Ronald J A Wanders
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.
Molecular genetics and metabolism 2004;82(1):33-7.
2004: Ronald J A Wanders
Metabolic and molecular basis of peroxisomal disorders: a review.
American journal of medical genetics. Part A 2004;126A(4):355-75.
2004: Peter G Barth; Fredoen Valianpour; Valerie M Bowen; Jan Lam; Marinus Duran; Frédéric M Vaz; Ronald J A Wanders
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.
American journal of medical genetics. Part A 2004;126A(4):349-54.
2004: Bwee Tien Poll-The; Jeannette Gootjes; Marinus Duran; J B C de Klerk; Liesbeth J Maillette de Buy Wenniger-Prick; Ronald J C Admiraal; Hans R Waterham; Ronald J A Wanders; Peter G Barth
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
American journal of medical genetics. Part A 2004;126A(4):333-8.
2004: Bwee Tien Poll-The; Ronald J A Wanders; Jos P N Ruiter; Rob Ofman; Charles B L M Majoie; Peter G Barth; Marinus Duran
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Molecular genetics and metabolism 2004;81(4):295-9.
2004: Sietske Hogenboom; John J M Tuyp; Marc Espeel; Jan Koster; Ronald J A Wanders; Hans R Waterham
Phosphomevalonate kinase is a cytosolic protein in humans.
Journal of lipid research 2004;45(4):697-705.
2004: Pedro Brites; Hans R Waterham; Ronald J A Wanders
Functions and biosynthesis of plasmalogens in health and disease.
Biochimica et biophysica acta 2004;1636(2-3):219-31.
2004: Gerbert Jansen; Hans R Waterham; Ronald J A Wanders
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Human mutation 2004;23(3):209-18.
2004: Sietske Hogenboom; John J M Tuyp; Marc Espeel; Jan Koster; Ronald J A Wanders; Hans R Waterham
Human mevalonate pyrophosphate decarboxylase is localized in the cytosol.
Molecular genetics and metabolism 2004;81(3):216-24.
2004: Jeannette Gootjes; Orly Elpeleg; François Eyskens; Hanna Mandel; Delphine Mitanchez; Nobuyuki Shimozawa; Yasuyuki Suzuki; Hans R Waterham; Ronald J A Wanders
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Pediatric research 2004;55(3):431-6.
2004: Sietske Hogenboom; John J M Tuyp; Marc Espeel; Jan Koster; Ronald J A Wanders; Hans R Waterham
Mevalonate kinase is a cytosolic enzyme in humans.
Journal of cell science 2004;117(Pt 4):631-9.
2004: Jeannette Gootjes; Frank Schmohl; Hans R Waterham; Ronald J A Wanders
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
European journal of human genetics : EJHG 2004;12(2):115-20.
2004: Zhiming Gu; Fredoen Valianpour; Shuliang Chen; Frédéric M Vaz; Gertjan A Hakkaart; Ronald J A Wanders; Miriam L. Greenberg
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.
Molecular microbiology 2004;51(1):149-58.
2004: Tobias B Dansen; Geert J P L Kops; Simone Denis; Nannette Jelluma; Ronald J A Wanders; Johannes L Bos; Boudewijn M T Burgering; Karel W A Wirtz
Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3a.
Journal of lipid research 2004;45(1):81-8.
2003: Michael Schlame; Richard I Kelley; Annette Feigenbaum; Jeffrey A Towbin; Paul M Heerdt; Thomas Schieble; Ronald J A Wanders; Salvatore DiMauro; Thomas J J Blanck
Phospholipid abnormalities in children with Barth syndrome.
Journal of the American College of Cardiology 2003;42(11):1994-9.
2003: Marjolijn M van der Eb; Sacha Geutskens; André B P van Kuilenburg; Henk van Lenthe; Jan Hein van Dierendonck; Peter Kuppen; Hans van Ormondt; Cornelis J H van de Velde; Ronald J A Wanders; Albert H van Gennip; Rob Hoeben
Ganciclovir nucleotides accumulate in mitochondria of rat liver cells expressing the herpes simplex virus thymidine kinase gene.
The journal of gene medicine 2003;5(12):1018-27.
2003: Sietske Hogenboom; Ronald J A Wanders; Hans R Waterham
Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts.
Molecular genetics and metabolism 2003;80(3):290-5.
2003: Levinus A Bok; Peter Vreken; Frits A Wijburg; Ronald J A Wanders; Niels Gregersen; Morten J Corydon; Hans R Waterham; Marinus Duran
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
Pediatrics 2003;112(5):1152-5.
2003: Frédéric M Vaz; Riekelt H Houtkooper; Fredoen Valianpour; Peter G Barth; Ronald J A Wanders
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.
The Journal of biological chemistry 2003;278(44):43089-94.
2003: Yasuhiko Takemoto; Yasuyuki Suzuki; Ryoko Horibe; Nobuyuki Shimozawa; Ronald J A Wanders; Naomi Kondo
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.
Brain & development 2003;25(7):481-7.
2003: Sacha Ferdinandusse; Simone Denis; Georges Dacremont; Ronald J A Wanders
Studies on the metabolic fate of n-3 polyunsaturated fatty acids.
Journal of lipid research 2003;44(10):1992-7.
2003: Fernanda A A Langius; Hans R Waterham; Gerrit Jan Romeijn; Wendy Oostheim; Martina M J de Barse; Lambertus Dorland; Marinus Duran; Frits A Beemer; Ronald J A Wanders; Bwee Tien Poll-The
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
American journal of medical genetics. Part A 2003;122A(1):24-9.
2003: Pedro Brites; Alison M Motley; Pierre Gressens; Petra A W Mooyer; Ingrid Ploegaert; Vincent Everts; Philippe Evrard; Peter Carmeliet; Mieke Dewerchin; Luc Schoonjans; Marinus Duran; Hans R Waterham; Ronald J A Wanders; Myriam Baes
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
Human molecular genetics 2003;12(18):2255-67.
2003: Mridul Mukherji; Christopher J Schofield; Anthony S Wierzbicki; Gerbert Jansen; Ronald J A Wanders; Matthew D Lloyd
The chemical biology of branched-chain lipid metabolism.
Progress in lipid research 2003;42(5):359-76.
2003: Sacha Ferdinandusse; Barbara Finckh; Yvette C de Hingh; Lida E M Stroomer; Simone Denis; Alfried Kohlschuetter; Ronald J A Wanders
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency.
Molecular genetics and metabolism 2003;79(4):281-7.
2003: Fredoen Valianpour; Jacqueline J M Selhorst; Lia E M van Lint; Albert H van Gennip; Ronald J A Wanders; Stephan Kemp
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry.
Molecular genetics and metabolism 2003;79(3):189-96.
2003: Margarethe E J den Boer; Carlo Dionisi Vici; Anupam Chakrapani; Anders O J van Thuijl; Ronald J A Wanders; Frits A Wijburg
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.
The Journal of pediatrics 2003;142(6):684-9.
2003: Cristiano Rizzo; Sara Boenzi; Ronald J A Wanders; Marinus Duran; Ubaldo Caruso; Carlo Dionisi Vici
Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry.
Pediatric research 2003;53(6):1013-8.
2003: Rob Ofman; Jos P N Ruiter; Marike Feenstra; Marinus Duran; Bwee Tien Poll-The; Johannes Zschocke; Regina Ensenauer; Willy Lehnert; Jörn Oliver Sass; Wolfgang Sperl; Ronald J A Wanders
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
American journal of human genetics 2003;72(5):1300-7.
2003: Hans R Waterham; Jan Koster; Petra A W Mooyer; Gerard van Noort Gv; Richard I Kelley; William R Wilcox; Ronald J A Wanders; Raoul Hennekam; Jan C Oosterwijk
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
American journal of human genetics 2003;72(4):1013-7.
2003: Ronald J A Wanders; Gerbert Jansen; Matthew D Lloyd
Phytanic acid alpha-oxidation, new insights into an old problem: a review.
Biochimica et biophysica acta 2003;1631(2):119-35.
2003: Jolein Gloerich; Simone Denis; Elisabeth G van Grunsven; Georges Dacremont; Ronald J A Wanders; Sacha Ferdinandusse
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
Journal of lipid research 2003;44(3):640-4.
2003: Sander M Houten; Marit S Schneiders; Ronald J A Wanders; Hans R Waterham
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients.
The Journal of biological chemistry 2003;278(8):5736-43.
2003: Sander M Houten; Christiaan S van Woerden; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
European journal of human genetics : EJHG 2003;11(2):196-200.
2003: Viola Prietsch; Ertan Mayatepek; Hermann Krastel; Dorothea Haas; Dorothee Zundel; Hans R Waterham; Ronald J A Wanders; K Michael Gibson; Georg F Hoffmann
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Pediatrics 2003;111(2):258-61.
2003: Christiaan S van Woerden; Jaap W Groothoff; Ronald J A Wanders; Jean-Claude Davin; Frits A Wijburg
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2003;18(2):273-9.
2003: Daan M van den Brink; Pedro Brites; Janet Haasjes; Anthony S Wierzbicki; John Mitchell; Michelle Lambert-Hamill; Jackie de Belleroche; Gerbert Jansen; Hans R Waterham; Ronald J A Wanders
Identification of PEX7 as the second gene involved in Refsum disease.
American journal of human genetics 2003;72(2):471-7.
2003: Sietske Hogenboom; Gerrit Jan Romeijn; Sander M Houten; Myriam Baes; Ronald J A Wanders; Hans R Waterham
Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis.
Advances in experimental medicine and biology 2003;544():329-30.
2003: Ronald J A Wanders; Carlo W T van Roermund; Wouter Visser; Sacha Ferdinandusse; Gerbert Jansen; Daan M van den Brink; Jolein Gloerich; Hans R Waterham
Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.
Advances in experimental medicine and biology 2003;544():293-302.
2003: Jeannette Gootjes; Hanna Mandel; Petra A W Mooijer; Frank Roels; Hans R Waterham; Ronald J A Wanders
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.
Advances in experimental medicine and biology 2003;544():107-11.
2003: Frank Roels; Jean-Marie Saudubray; Marisa Giros; Hanna Mandel; François Eyskens; Nieves Saracibar; Begoña Atares Pueyo; Jose M Prats; Betty De Prest; Katleen De Preter; Mercedes Pineda; Pierre Krystkowiak; Jeannette Gootjes; Ronald J A Wanders; Marc Espeel; Bwee Tien Poll-The
Peroxisome mosaics.
Advances in experimental medicine and biology 2003;544():97-106.
2003: Daan M van den Brink; Pedro Brites; Janet Haasjes; Anthony S Wierzbicki; John Mitchell; Michelle Lambert-Hamill; Jackie de Belleroche; Gerbert Jansen; Hans R Waterham; Ronald J A Wanders
Identification of PEX7 as the second gene involved in Refsum disease.
Advances in experimental medicine and biology 2003;544():69-70.
2003: Jeannette Gootjes; Petra A W Mooijer; Conny Dekker; Peter G Barth; Bwee Tien Poll-The; Hans R Waterham; Ronald J A Wanders
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Advances in experimental medicine and biology 2003;544():67-8.
2003: Roel Smeets; Jan A M Smeitink; Ben A Semmekrot; Hans R Scholte; Ronald J A Wanders; Lambert P van den Heuvel
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
Journal of human genetics 2003;48(1):8-13.
2003: Marcellus Simadibrata; Ronald J A Wanders; Gerrit Jan; G N J Tytgat; Laurentius A Lesmana; Iwan Ariawan
Examination of small bowel enzymes in chronic diarrhea.
Journal of gastroenterology and hepatology 2003;18(1):53-6.
2002: Sander M Houten; Joost Frenkel; Ger T Rijkers; Ronald J A Wanders; Wietse Kuis; Hans R Waterham
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.
Human molecular genetics 2002;11(25):3115-24.
2002: Lodewijk IJlst; Ference J Loupatty; Jos P N Ruiter; Marinus Duran; Willy Lehnert; Ronald J A Wanders
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
American journal of human genetics 2002;71(6):1463-6.
2002: Fredoen Valianpour; Ronald J A Wanders; Henk Overmars; Peter Vreken; Albert H van Gennip; Frank Baas; Barbara Plecko; Rene Santer; Kolja Becker; Peter G Barth
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
The Journal of pediatrics 2002;141(5):729-33.
2002: Jürgen G Okun; Stefan Kölker; Andreas Schulze; Dirk Kohlmüller; Katharina Olgemöller; Martin Lindner; Georg F Hoffmann; Ronald J A Wanders; Ertan Mayatepek
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
Biochimica et biophysica acta 2002;1584(2-3):91-8.
2002: Joost Frenkel; Ger T Rijkers; Saskia H L Mandey; Sandra W M Buurman; Sander M Houten; Ronald J A Wanders; Hans R Waterham; Wietse Kuis
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome.
Arthritis and rheumatism 2002;46(10):2794-803.
2002: Fredoen Valianpour; Ronald J A Wanders; Peter G Barth; Henk Overmars; Albert H van Gennip
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.
Clinical chemistry 2002;48(9):1390-7.
2002: Stephanie J Mihalik; Steven J Steinberg; Zhengtong Pei; Joseph Park; Do G Kim; Ann Heinzer; Georges Dacremont; Ronald J A Wanders; Dean Cuebas; Kirby D Smith; Paul A Watkins
Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling.
The Journal of biological chemistry 2002;277(27):24771-9.
2002: Frédéric M Vaz; Béla Melegh; Judit Bene; Dean Cuebas; Douglas A Gage; Albert H Bootsma; Peter Vreken; Albert H van Gennip; Loran L Bieber; Ronald J A Wanders
Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.
Clinical chemistry 2002;48(6 Pt 1):826-34.
2002: Regina Ensenauer; Helmut Niederhoff; Jos P N Ruiter; Ronald J A Wanders; Karl Otfried Schwab; Matthias Brandis; Willy Lehnert
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Annals of neurology 2002;51(5):656-9.
2002: Sacha Ferdinandusse; Thomas Meissner; Ronald J A Wanders; Ertan Mayatepek
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.
Biochemical and biophysical research communications 2002;293(1):269-73.
2002: Jan H Swiegers; Frédéric M Vaz; Isak S Pretorius; Ronald J A Wanders; Florian F Bauer
Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae.
FEMS microbiology letters 2002;210(1):19-23.
2002: Annick Raas-Rothschild; Ronald J A Wanders; Petra A W Mooijer; Jeannette Gootjes; Hans R Waterham; Alisa Gutman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Gideon Eshel; Marc Espeel; Frank Roels; Stanley H Korman
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
American journal of human genetics 2002;70(4):1062-8.
2002: Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Yasuyuki Suzuki; Yukio Fujiki; Ronald J A Wanders; Naomi Kondo
A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.
Biochemical and biophysical research communications 2002;292(1):109-12.
2002: Margarida F B Silva; Jos P N Ruiter; Henk Overmars; Albert H Bootsma; Albert H van Gennip; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase.
The Biochemical journal 2002;362(Pt 3):755-60.
2002: Alison M Motley; Pedro Brites; Lisya Gerez; Eveline M Hogenhout; Janet Haasjes; Rob Benne; Henk F Tabak; Ronald J A Wanders; Hans R Waterham
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
American journal of human genetics 2002;70(3):612-24.
2002: Frédéric M Vaz; Ronald J A Wanders
Carnitine biosynthesis in mammals.
The Biochemical journal 2002;361(Pt 3):417-29.
2002: Sietske Hogenboom; Gerrit Jan Romeijn; Sander M Houten; Myriam Baes; Ronald J A Wanders; Hans R Waterham
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.
Journal of lipid research 2002;43(1):90-8.
2002: Margarethe E J den Boer; Ronald J A Wanders; Andrew A M Morris; Lodewijk IJlst; Hugo S A Heymans; Frits A Wijburg
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
Pediatrics 2002;109(1):99-104.
2001: Peter G Barth; Jeannette Gootjes; H Bode; Peter Vreken; Charles B L M Majoie; Ronald J A Wanders
Late onset white matter disease in peroxisome biogenesis disorder.
Neurology 2001;57(11):1949-55.
2001: Stephan Kemp; A Pujol; Hans R Waterham; Bjorn M Van Geel; Corinne D Boehm; Gerald V Raymond; Garry R Cutting; Ronald J A Wanders; Hugo W Moser
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Human mutation 2001;18(6):499-515.
2001: Sacha Ferdinandusse; Simone Denis; Petra A W Mooijer; Z Zhang; J K Reddy; A A Spector; Ronald J A Wanders
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.
Journal of lipid research 2001;42(12):1987-95.
2001: Margarida F B Silva; Jacqueline J M Selhorst; Henk Overmars; Albert H van Gennip; M Maya; Ronald J A Wanders; Isabel Tavares de Almeida; Marinus Duran
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.
Clinical biochemistry 2001;34(8):635-8.
2001: Ronald J A Wanders; Gerbert Jansen; OH Skjeldal
Refsum disease, peroxisomes and phytanic acid oxidation: a review.
Journal of neuropathology and experimental neurology 2001;60(11):1021-31.
2001: Nelson Tang; Joannie Hui; L K Law; Ka-Fai To; Tony W L Mak; Kam-Lau Cheung; P Vreken; Ronald J A Wanders; Tai Fai Fok
Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.
Clinica chimica acta; international journal of clinical chemistry 2001;313(1-2):195-201.
2001: Hans R Waterham; Jan Koster; Gerrit Jan Romeijn; Raoul Hennekam; Peter Vreken; Hans Andersson; D R FitzPatrick; Richard I Kelley; Ronald J A Wanders
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
American journal of human genetics 2001;69(4):685-94.
2001: Margarida F B Silva; Jos P N Ruiter; Lodewijk IJlst; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acids.
Chemico-biological interactions 2001;137(3):203-12.
2001: Frédéric M Vaz; Rob Ofman; K Westinga; Jaap Willem Back; Ronald J A Wanders
Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis.
The Journal of biological chemistry 2001;276(36):33512-7.
2001: Margarida F B Silva; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproate induces in vitro accumulation of long-chain fatty acylcarnitines.
Molecular genetics and metabolism 2001;73(4):358-61.
2001: Michèl A A P Willemsen; Lodewijk IJlst; PM Steijlen; Jan J Rotteveel; Jan G N de Jong; Peter H M F Van Domburg; Ertan Mayatepek; Fons J M Gabreëls; Ronald J A Wanders
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Brain : a journal of neurology 2001;124(Pt 7):1426-37.
2001: Carlo W T van Roermund; R Drissen; Marlene van den Berg; Lodewijk IJlst; Ewald H Hettema; Henk F Tabak; Hans R Waterham; Ronald J A Wanders
Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae.
Molecular and cellular biology 2001;21(13):4321-9.
2001: C Walter; Jeannette Gootjes; Petra A W Mooijer; H Portsteffen; C Klein; Hans R Waterham; Peter G Barth; Jörg T Epplen; Wolf-H Kunau; Ronald J A Wanders; Gabriele Dodt
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
American journal of human genetics 2001;69(1):35-48.
2001: Gerbert Jansen; Daan M van den Brink; Rob Ofman; O Draghici; Georges Dacremont; Ronald J A Wanders
Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes.
Biochemical and biophysical research communications 2001;283(3):674-9.
2001: PE Jira; Ronald J A Wanders; Jan A M Smeitink; J de Jong; Ron A Wevers; W Oostheim; Joep H A M Tuerlings; Raoul Hennekam; Rob C A Sengers; Hans R Waterham
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
Annals of human genetics 2001;65(Pt 3):229-36.
2001: Johannes Zschocke; Andreas Schulze; Martin Lindner; S Fiesel; Katharina Olgemöller; Georg F Hoffmann; Johannes M Penzien; J P Ruiter; Ronald J A Wanders; Ertan Mayatepek
Molecular and functional characterisation of mild MCAD deficiency.
Human genetics 2001;108(5):404-8.
2001: Ronald J A Wanders; Peter Vreken; Sacha Ferdinandusse; Gerbert Jansen; Hans R Waterham; Carlo W T van Roermund; Elisabeth G van Grunsven
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Biochemical Society transactions 2001;29(Pt 2):250-67.
2001: Sander M Houten; Jan Koster; Gerrit Jan Romeijn; Joost Frenkel; Maja Di Rocco; Ubaldo Caruso; P Landrieu; Richard I Kelley; Wietse Kuis; Bwee Tien Poll-The; K M Gibson; Ronald J A Wanders; Hans R Waterham
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
European journal of human genetics : EJHG 2001;9(4):253-9.
2001: Johanna Assies; Ritsaert Lieverse; Peter Vreken; Ronald J A Wanders; Peter M A J Dingemans; Don Linszen
Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control group.
Biological psychiatry 2001;49(6):510-22.
2001: Rob Ofman; S Lajmir; Ronald J A Wanders
Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations.
Biochemical and biophysical research communications 2001;281(3):754-60.
2001: Margarida F B Silva; Jos P N Ruiter; Lodewijk IJlst; Paul Allers; Herman J Ten Brink; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.
Analytical biochemistry 2001;290(1):60-7.
2001: Tobias B Dansen; Ronald J A Wanders; Karel W A Wirtz
Targeted fluorescent probes in peroxisome function.
The Histochemical journal 2001;33(2):65-9.
2001: Lodewijk IJlst; Carlo W T van Roermund; Vito Iacobazzi; Wendy Oostheim; Jos P N Ruiter; J C Williams; Ferdinando Palmieri; Ronald J A Wanders
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.
Biochemical and biophysical research communications 2001;280(3):700-6.
2001: Gabriele Möller; Elisabeth G van Grunsven; Ronald J A Wanders; Jerzy Adamski
Molecular basis of D-bifunctional protein deficiency.
Molecular and cellular endocrinology 2001;171(1-2):61-70.
2001: Michèl A A P Willemsen; Jan J Rotteveel; Jan G N de Jong; Ronald J A Wanders; Lodewijk IJlst; Georg F Hoffmann; Ertan Mayatepek
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
Journal of the neurological sciences 2001;183(1):61-7.
2001: Sacha Ferdinandusse; Henk Overmars; Simone Denis; Hans R Waterham; Ronald J A Wanders; Peter Vreken
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.
Journal of lipid research 2001;42(1):137-41.
2000: Peter Vreken; Fredoen Valianpour; Leo G J Nijtmans; Les Grivell; Barbara Plecko; Ronald J A Wanders; Peter G Barth
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Biochemical and biophysical research communications 2000;279(2):378-82.
2000: Hans R Waterham; Ronald J A Wanders
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
Biochimica et biophysica acta 2000;1529(1-3):340-56.
2000: Sander M Houten; Ronald J A Wanders; Hans R Waterham
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
Biochimica et biophysica acta 2000;1529(1-3):19-32.
2000: Johannes Zschocke; J P Ruiter; J Brand; Martin Lindner; Georg F Hoffmann; Ronald J A Wanders; Ertan Mayatepek
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
Pediatric research 2000;48(6):852-5.
2000: Sacha Ferdinandusse; Simone Denis; Lodewijk IJlst; Georges Dacremont; Hans R Waterham; Ronald J A Wanders
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.
Journal of lipid research 2000;41(11):1890-6.
2000: Brage S Andresen; Ernst Christensen; Thomas J Corydon; Peter Bross; B Pilgaard; Ronald J A Wanders; Jos P N Ruiter; Henrik Simonsen; Vibeke Winter; Inga Knudsen; Lisbeth Dahl Schroeder; Niels Gregersen; Flemming Skovby
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
American journal of human genetics 2000;67(5):1095-103.
2000: A Imamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; Toshiro Tsukamoto; Yukio Fujiki; Tadao Orii; Takashi Osumi; Ronald J A Wanders; Naomi Kondo
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
Pediatric research 2000;48(4):541-5.
2000: Toshiyuki Fukao; Grant A Mitchell; XQ Song; Haruki Nakamura; S Kassovska-Bratinova; KE Orii; James Wraith; G T N Besley; Ronald J A Wanders; K E Niezen-Koning; Gerard T Berry; M Palmieri; Naomi Kondo
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
Genomics 2000;68(2):144-51.
2000: Carlo W T van Roermund; Henk F Tabak; Marlene van den Berg; Ronald J A Wanders; Ewald H Hettema
Pex11p plays a primary role in medium-chain fatty acid oxidation, a process that affects peroxisome number and size in Saccharomyces cerevisiae.
The Journal of cell biology 2000;150(3):489-98.
2000: Margarethe E J den Boer; Lodewijk IJlst; Frits A Wijburg; Wendy Oostheim; MA van Werkhoven; Marielle van Pampus; Hugo S A Heymans; Ronald J A Wanders
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
Pediatric research 2000;48(2):151-4.
2000: Wulf Röschinger; Ania C Muntau; Marinus Duran; L Dorland; Lodewijk IJlst; Ronald J A Wanders; Adelbert A Roscher
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.
Clinica chimica acta; international journal of clinical chemistry 2000;298(1-2):55-68.
2000: Peter Vreken; Fredoen Valianpour; Henk Overmars; Peter G Barth; Jacqueline J M Selhorst; Albert H van Gennip; Ronald J A Wanders
Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders.
Journal of inherited metabolic disease 2000;23(4):429-33.
2000: Gerbert Jansen; Simone Denis; Nanda M Verhoeven; Cornelis Jakobs; Ronald J A Wanders
Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.
Journal of inherited metabolic disease 2000;23(4):421-4.
2000: Sander M Houten; Joost Frenkel; Wietse Kuis; Ronald J A Wanders; Bwee Tien Poll-The; Hans R Waterham
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
Journal of inherited metabolic disease 2000;23(4):367-70.
2000: Bwee Tien Poll-The; Joost Frenkel; Sander M Houten; Wietse Kuis; Marinus Duran; Tom J de Koning; Lambertus Dorland; Martina M J de Barse; Gerrit Jan Romeijn; Ronald J A Wanders; Hans R Waterham
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
Journal of inherited metabolic disease 2000;23(4):363-6.
2000: Hans R Waterham; Wendy Oostheim; Gerrit Jan Romeijn; Ronald J A Wanders; Raoul Hennekam
Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome.
Journal of medical genetics 2000;37(5):387-9.
2000: Gerbert Jansen; Eveline M Hogenhout; Sacha Ferdinandusse; Hans R Waterham; Rob Ofman; Cornelis Jakobs; OH Skjeldal; Ronald J A Wanders
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Human molecular genetics 2000;9(8):1195-200.
2000: Joost P H Drenth; Hans R Waterham; Wietse Kuis; Sander M Houten; Joost Frenkel; Ronald J A Wanders; Bwee Tien Poll-The; Jos W M van der Meer
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics].
Nederlands tijdschrift voor geneeskunde 2000;144(17):782-5.
2000: Lodewijk IJlst; I de Kromme; Wendy Oostheim; Ronald J A Wanders
Molecular cloning and expression of human L-pipecolate oxidase.
Biochemical and biophysical research communications 2000;270(3):1101-5.
2000: Frédéric M Vaz; Sigrid W Fouchier; Rob Ofman; M Sommer; Ronald J A Wanders
Molecular and biochemical characterization of rat gamma-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis.
The Journal of biological chemistry 2000;275(10):7390-4.
2000: Sacha Ferdinandusse; Simone Denis; E van Berkel; Georges Dacremont; Ronald J A Wanders
Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method.
Journal of lipid research 2000;41(3):336-42.
2000: C H van Ommen; Marjolein Peters; P G Barth; P Vreken; Ronald J A Wanders; J Jaeken
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.
The Journal of pediatrics 2000;136(3):400-3.
2000: Nobuyuki Shimozawa; Zhongyi Zhang; A Imamura; Yasuyuki Suzuki; Yukio Fujiki; Toshiro Tsukamoto; Takashi Osumi; P Aubourg; Ronald J A Wanders; Naomi Kondo
Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient.
Biochemical and biophysical research communications 2000;268(1):31-5.
2000: Ronald J A Wanders; Elisabeth G van Grunsven; Gerbert Jansen
Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans.
Biochemical Society transactions 2000;28(2):141-9.
2000: R J Dunckelmann; Friedrich Ebinger; A Schulze; Ronald J A Wanders; Dietz Rating; Ertan Mayatepek
2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria.
Neuropediatrics 2000;31(1):35-8.
2000: Haggit Hurvitz; Aharon Klar; isabelle korn-lubetzki; Ronald J A Wanders; Orly Elpeleg
Muscular carnitine palmitoyltransferase II deficiency in infancy.
Pediatric neurology 2000;22(2):148-50.
2000: Michèl A A P Willemsen; Jan G N de Jong; Peter H M F Van Domburg; Jan J Rotteveel; Ronald J A Wanders; Ertan Mayatepek
Sjögren-Larsson syndrome.
The Journal of pediatrics 2000;136(2):261.
2000: Michèl A A P Willemsen; Jan G N de Jong; Peter H M F Van Domburg; Jan J Rotteveel; Ronald J A Wanders; Ertan Mayatepek
Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome.
The Journal of pediatrics 2000;136(2):258-60.
2000: Sacha Ferdinandusse; Simone Denis; P T Clayton; A Graham; J E Rees; J T Allen; B N McLean; A Y Brown; Peter Vreken; Hans R Waterham; Ronald J A Wanders
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Nature genetics 2000;24(2):188-91.
2000: Ronald J A Wanders
Peroxisomes, lipid metabolism, and human disease.
Cell biochemistry and biophysics 2000;32 Spring():89-106.
2000: H Watanabe; KE Orii; Toshiyuki Fukao; XQ Song; Toshifumi Aoyama; Lodewijk IJlst; J Ruiter; Ronald J A Wanders; Naomi Kondo
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
Human mutation 2000;15(5):430-8.
2000: Tobias B Dansen; Karel W A Wirtz; Ronald J A Wanders; Everard Pap
Peroxisomes in human fibroblasts have a basic pH.
Nature cell biology 2000;2(1):51-3.
1999: J Biermann; J Gootjes; Ronald J A Wanders; H van den Bosch
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.
IUBMB life 1999;48(6):635-9.
1999: Gerbert Jansen; Rob Ofman; Simone Denis; Sacha Ferdinandusse; Eveline M Hogenhout; Cornelis Jakobs; Ronald J A Wanders
Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation.
Journal of lipid research 1999;40(12):2244-54.
1999: EC de Vet; Lodewijk IJlst; Wendy Oostheim; C Dekker; H W Moser; H van den Bosch; Ronald J A Wanders
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
Journal of lipid research 1999;40(11):1998-2003.
1999: Carlo W T van Roermund; Ewald H Hettema; Marlene van den Berg; Henk F Tabak; Ronald J A Wanders
Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p.
The EMBO journal 1999;18(21):5843-52.
1999: Choni Rinat; Ronald J A Wanders; Alfred Drukker; David Halle; Yaacov Frishberg
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.
Journal of the American Society of Nephrology : JASN 1999;10(11):2352-8.
1999: Nobuyuki Shimozawa; A Imamura; Zhongyi Zhang; Yasuyuki Suzuki; Tadao Orii; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Ronald J A Wanders; G T N Besley; Naomi Kondo
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Journal of medical genetics 1999;36(10):779-81.
1999: Willy Lissens; P Vreken; Peter G Barth; F A Wijburg; Wim Ruitenbeek; Ronald J A Wanders; Sara Seneca; Inge Liebaers; Linda De Meirleir
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
European journal of pediatrics 1999;158(10):853-7.
1999: Gerbert Jansen; Nanda M Verhoeven; Simone Denis; G Romeijn; Cornelis Jakobs; Herman J Ten Brink; Ronald J A Wanders
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes.
Biochimica et biophysica acta 1999;1440(2-3):176-82.
1999: Sacha Ferdinandusse; J Mulders; Lodewijk IJlst; Simone Denis; Georges Dacremont; Hans R Waterham; Ronald J A Wanders
Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.
Biochemical and biophysical research communications 1999;263(1):213-8.
1999: Bjorn M Van Geel; Johanna Assies; Elisabeth B Haverkort; J H T M Koelman; Bernard Verbeeten; Ronald J A Wanders; Peter G Barth
Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil".
Journal of neurology, neurosurgery, and psychiatry 1999;67(3):290-9.
1999: R Toyama; Satoru Mukai; A Itagaki; Shigehiko Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Ronald J A Wanders; Yukio Fujiki
Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.
Human molecular genetics 1999;8(9):1673-81.
1999: Nobuyuki Shimozawa; Zhongyi Zhang; Yasuyuki Suzuki; A Imamura; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Tadao Orii; PG Barth; Ronald J A Wanders; Naomi Kondo
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
Biochemical and biophysical research communications 1999;262(2):504-8.
1999: Sander M Houten; Gerrit Jan Romeijn; Jan Koster; R G Gray; P Darbyshire; G Peter A Smit; J B de Klerk; Marinus Duran; K M Gibson; Ronald J A Wanders; Hans R Waterham
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Human molecular genetics 1999;8(8):1523-8.
1999: Elisabeth G van Grunsven; Petra A W Mooijer; P Aubourg; Ronald J A Wanders
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
Human molecular genetics 1999;8(8):1509-16.
1999: Rob Ofman; Eveline M Hogenhout; Ronald J A Wanders
Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase.
Biochimica et biophysica acta 1999;1439(1):89-94.
1999: Frédéric M Vaz; Hans R Scholte; Jos P N Ruiter; L M Hussaarts-Odijk; R R Pereira; S Schweitzer; J B C de Klerk; Hans R Waterham; Ronald J A Wanders
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
Human genetics 1999;105(1-2):157-61.
1999: Ronald J A Wanders; Peter Vreken; Margarethe E J den Boer; Frits A Wijburg; Albert H van Gennip; Lodewijk IJlst
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Journal of inherited metabolic disease 1999;22(4):442-87.
1999: Sander M Houten; Wietse Kuis; Marinus Duran; Tom J de Koning; Annet van Royen-Kerkhof; Gerrit Jan Romeijn; Joost Frenkel; Lambertus Dorland; Martina M J de Barse; W A Huijbers; Ger T Rijkers; Hans R Waterham; Ronald J A Wanders; Bwee Tien Poll-The
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Nature genetics 1999;22(2):175-7.
1999: Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; A Imamura; R Toyama; Satoru Mukai; Yukio Fujiki; Toshiro Tsukamoto; Takashi Osumi; Tadao Orii; Ronald J A Wanders; Naomi Kondo
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
Human molecular genetics 1999;8(6):1077-83.
1999: J Biermann; J Gootjes; Bruno M Humbel; Tobias B Dansen; Ronald J A Wanders; H van den Bosch
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders.
European journal of cell biology 1999;78(5):339-48.
1999: Lodewijk IJlst; Wendy Oostheim; MA van Werkhoven; Michèl A A P Willemsen; Ronald J A Wanders
Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.
Journal of inherited metabolic disease 1999;22(3):319-21.
1999: Ronald J A Wanders; Petra A W Mooijer; Conny Dekker; Yasuyuki Suzuki; Nobuyuki Shimozawa
Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).
Journal of inherited metabolic disease 1999;22(3):314-8.
1999: Albert H Bootsma; Henk Overmars; A van Rooij; A E M van Lint; Ronald J A Wanders; Albert H van Gennip; Peter Vreken
Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders.
Journal of inherited metabolic disease 1999;22(3):307-10.
1999: Peter Vreken; A E M van Lint; Albert H Bootsma; Henk Overmars; Ronald J A Wanders; Albert H van Gennip
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.
Journal of inherited metabolic disease 1999;22(3):302-6.
1999: Brage S Andresen; Simon E Olpin; E A Kvittingen; Persefoni Augoustides-Savvopoulou; Dick Lindhout; D J Halley; Christine Vianey-Saban; Ronald J A Wanders; Lodewijk IJlst; Lisbeth Dahl Schroeder; Lars Bolund; Niels Gregersen
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1999;22(3):281-5.
1999: Michèl A A P Willemsen; PM Steijlen; Jan G N de Jong; Jan J Rotteveel; Lodewijk IJlst; MA van Werkhoven; Ronald J A Wanders
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome.
The Journal of investigative dermatology 1999;112(5):827-8.
1999: Peter H M F Van Domburg; Michèl A A P Willemsen; Jan J Rotteveel; Jan G N de Jong; Henk O M Thijssen; Arend Heerschap; J R M Cruysberg; Ronald J A Wanders; Fons J M Gabreëls; PM Steijlen
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
Neurology 1999;52(7):1345-52.
1999: Gabriele Möller; Frauke Leenders; Elisabeth G van Grunsven; V Dolez; Britta Qualmann; Michael kessels; MM Markus; A Krazeisen; Bettina Husen; Ronald J A Wanders; Yvan de Launoit; Jerzy Adamski
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
The Journal of steroid biochemistry and molecular biology 1999;69(1-6):441-6.
1999: Ronald J A Wanders
Peroxisomal disorders: clinical, biochemical, and molecular aspects.
Neurochemical research 1999;24(4):565-80.
1999: J Sybil Biermann; W W Just; Ronald J A Wanders; H van den Bosch
Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes.
European journal of biochemistry / FEBS 1999;261(2):492-9.
1999: Tobias B Dansen; Jan Westerman; FS Wouters; Ronald J A Wanders; A van Hoek; Theodorus W J Gadella; Karel W A Wirtz
High-affinity binding of very-long-chain fatty acyl-CoA esters to the peroxisomal non-specific lipid-transfer protein (sterol carrier protein-2).
The Biochemical journal 1999;339 ( Pt 1)():193-9.
1999: Yuji Matsuzono; Naohiko Kinoshita; Shigehiko Tamura; Nobuyuki Shimozawa; M Hamasaki; Kamran Ghaedi; Ronald J A Wanders; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(5):2116-21.
1999: Fátima V Ventura; CG Costa; Eduard A Struys; Jos P N Ruiter; Paul Allers; Lodewijk IJlst; Isabel Tavares de Almeida; Marinus Duran; Cornelis Jakobs; Ronald J A Wanders
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.
Clinica chimica acta; international journal of clinical chemistry 1999;281(1-2):1-17.
1999: Brage S Andresen; Simon E Olpin; B J H M Poorthuis; Hans R Scholte; Christine Vianey-Saban; Ronald J A Wanders; Lodewijk IJlst; A Morris; Morteza Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; Lisbeth Dahl Schroeder; Thomas J Corydon; H Lund; Vibeke Winter; Peter Bross; Lars Bolund; Niels Gregersen
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
American journal of human genetics 1999;64(2):479-94.
1999: Gerbert Jansen; Sacha Ferdinandusse; Eveline M Hogenhout; Nanda M Verhoeven; Cornelis Jakobs; Ronald J A Wanders
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Advances in experimental medicine and biology 1999;466():371-6.
1999: Elisabeth G van Grunsven; E van Berkel; Simone Denis; Petra A W Mooijer; Ronald J A Wanders
D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation.
Advances in experimental medicine and biology 1999;466():365-9.
1999: Jos P N Ruiter; Wendy Oostheim; Klary E Niezen-Koning; Ferdinando Palmieri; Ronald J A Wanders
Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency.
Advances in experimental medicine and biology 1999;466():347-51.
1999: Peter Vreken; A E M van Lint; Albert H Bootsma; Henk Overmars; Ronald J A Wanders; Albert H van Gennip
Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma.
Advances in experimental medicine and biology 1999;466():327-37.
1999: Ronald J A Wanders
Functions and dysfunctions of peroxisomes in fatty acid alpha- and beta-oxidation. New insights.
Advances in experimental medicine and biology 1999;466():283-99.
1999: Frédéric M Vaz; S van Gool; Rob Ofman; Lodewijk IJlst; Ronald J A Wanders
Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver.
Advances in experimental medicine and biology 1999;466():117-24.
1999: Zhongyi Zhang; Yasuyuki Suzuki; Nobuyuki Shimozawa; Seiji Fukuda; A Imamura; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Tadao Orii; Ronald J A Wanders; PG Barth; H W Moser; B C Paton; G T N Besley; Naomi Kondo
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Human mutation 1999;13(6):487-96.
1999: Elisabeth G van Grunsven; E van Berkel; Petra A W Mooijer; Paul A Watkins; Hugo W Moser; Yasuyuki Suzuki; L L Jiang; T Hashimoto; Gerald Hoefler; Jerzy Adamski; Ronald J A Wanders
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
American journal of human genetics 1999;64(1):99-107.
1998: Nobuyuki Shimozawa; Yasuyuki Suzuki; Z Zhang; A Imamura; N Kondo; N Kinoshita; Y Fujiki; T Tsukamoto; T Osumi; T Imanaka; T Orii; F Beemer; Petra A W Mooijer; Conny Dekker; Ronald J A Wanders
Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts.
American journal of human genetics 1998;63(6):1898-903.
1998: Peter Vreken; A van Rooij; Simone Denis; Elisabeth G van Grunsven; Dean Cuebas; Ronald J A Wanders
Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency.
Journal of lipid research 1998;39(12):2452-8.
1998: Frédéric M Vaz; S van Gool; Rob Ofman; Lodewijk IJlst; Ronald J A Wanders
Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.
Biochemical and biophysical research communications 1998;250(2):506-10.
1998: Hanna Mandel; R Sharf; Moshe Berant; Ronald J A Wanders; P Vreken; Michael Aviram
Plasmalogen phospholipids are involved in HDL-mediated cholesterol efflux: insights from investigations with plasmalogen-deficient cells.
Biochemical and biophysical research communications 1998;250(2):369-73.
1998: Naohiko Kinoshita; Kamran Ghaedi; Nobuyuki Shimozawa; Ronald J A Wanders; Yuji Matsuzono; T Imanaka; Kanji Okumoto; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals.
The Journal of biological chemistry 1998;273(37):24122-30.
1998: Peter Vreken; A E M van Lint; Albert H Bootsma; Henk Overmars; Ronald J A Wanders; Albert H van Gennip
Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry.
Journal of chromatography. B, Biomedical sciences and applications 1998;713(2):281-7.
1998: Karel W A Wirtz; FS Wouters; P H Bastiaens; Ronald J A Wanders; Udo Seedorf; T M Jovin
The non-specific lipid transfer protein (sterol carrier protein 2) acts as a peroxisomal fatty acyl-CoA binding protein.
Biochemical Society transactions 1998;26(3):374-8.
1998: Fátima V Ventura; Jos P N Ruiter; Lodewijk IJlst; Isabel Tavares de Almeida; Ronald J A Wanders
Lactic acidosis in long-chain fatty acid beta-oxidation disorders.
Journal of inherited metabolic disease 1998;21(6):645-54.
1998: Lodewijk IJlst; Hanna Mandel; Wendy Oostheim; Jos P N Ruiter; A Gutman; Ronald J A Wanders
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
The Journal of clinical investigation 1998;102(3):527-31.
1998: Hans R Waterham; Frits A Wijburg; Raoul Hennekam; Peter Vreken; Bwee Tien Poll-The; Lambertus Dorland; Marinus Duran; P E Jira; Jan A M Smeitink; Ron A Wevers; Ronald J A Wanders
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
American journal of human genetics 1998;63(2):329-38.
1998: Ronald J A Wanders; Simone Denis; Jos P N Ruiter; Lodewijk IJlst; Georges Dacremont
2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation.
Biochimica et biophysica acta 1998;1393(1):35-40.
1998: Kanji Okumoto; Nobuyuki Shimozawa; A Kawai; Shigehiko Tamura; Toshiro Tsukamoto; Takashi Osumi; H Moser; Ronald J A Wanders; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.
Molecular and cellular biology 1998;18(7):4324-36.
1998: Ronald J A Wanders; G J Romeijn
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
Biochemical and biophysical research communications 1998;247(3):663-7.
1998: Nelson Tang; Joannie Hui; L K Law; Ka-Fai To; J P Ruiter; Lodewijk IJlst; Ronald J A Wanders; Chung-Shun Ho; Tai Fai Fok; PM Yuen; N M Hjelm
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.
Journal of inherited metabolic disease 1998;21(4):423-5.
1998: Ronald J A Wanders; G J Romeijn
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
Journal of inherited metabolic disease 1998;21(3):309-12.
1998: Pedro Brites; Alison M Motley; Eveline M Hogenhout; Ewald H Hettema; Frits A Wijburg; Hugo S A Heijmans; Henk F Tabak; Ben Distel; Ronald J A Wanders
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
Journal of inherited metabolic disease 1998;21(3):306-8.
1998: Ronald J A Wanders; Simone Denis; E van Berkel; FS Wouters; Karel W A Wirtz; Udo Seedorf
Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: implications for peroxisomal beta-oxidation disorders.
Journal of inherited metabolic disease 1998;21(3):302-5.
1998: Elisabeth G van Grunsven; E van Berkel; Hugh Lemonde; P T Clayton; Ronald J A Wanders
Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.
Journal of inherited metabolic disease 1998;21(3):298-301.
1998: Gerbert Jansen; Sacha Ferdinandusse; OH Skjeldal; OH Stokke; C J de Groot; Cornelis Jakobs; Ronald J A Wanders
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
Journal of inherited metabolic disease 1998;21(3):288-91.
1998: Ronald J A Wanders; P W Mooyer; C Dekker; Peter Vreken
X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.
Journal of inherited metabolic disease 1998;21(3):285-7.
1998: Peter G Barth; Ronald J A Wanders; Hans R Scholte; N G G M Abeling; Cornelis Jakobs; R B Schutgens; Peter Vreken
L-2-hydroxyglutaric aciduria and lactic acidosis.
Journal of inherited metabolic disease 1998;21(3):251-4.
1998: Peter G Barth; Ronald J A Wanders; Wim Ruitenbeek; C Roe; Hans R Scholte; H van der Harten; J van Moorsel; Marinus Duran; Koert P Dingemans
Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families.
Neuromuscular disorders : NMD 1998;8(5):296-304.
1998: Fátima V Ventura; Lodewijk IJlst; Jos P N Ruiter; Rob Ofman; CG Costa; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; L L Bieber; Ronald J A Wanders
Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria.
European journal of biochemistry / FEBS 1998;253(3):614-8.
1998: Rob Ofman; Ewald H Hettema; Eveline M Hogenhout; U Caruso; Anton O Muijsers; Ronald J A Wanders
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
Human molecular genetics 1998;7(5):847-53.
1998: EC de Vet; Lodewijk IJlst; Wendy Oostheim; Ronald J A Wanders; H van den Bosch
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.
The Journal of biological chemistry 1998;273(17):10296-301.
1998: Udo Seedorf; M Raabe; Peter Ellinghaus; Frank Kannenberg; Manfred Fobker; Thomas Engel; Simone Denis; FS Wouters; Karel W A Wirtz; Ronald J A Wanders; Nobuyo Maeda; Gerd Assmann
Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function.
Genes & development 1998;12(8):1189-201.
1998: Ronald J A Wanders; J M Tager
Lipid metabolism in peroxisomes in relation to human disease.
Molecular aspects of medicine 1998;19(2):69-154.
1998: Gerbert Jansen; Stephanie J Mihalik; Paul A Watkins; Cornelis Jakobs; Hugo W Moser; Ronald J A Wanders
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders.
Clinica chimica acta; international journal of clinical chemistry 1998;271(2):203-11.
1998: Elisabeth G van Grunsven; E van Berkel; Lodewijk IJlst; Peter Vreken; J B de Klerk; Jerzy Adamski; Hugh Lemonde; P T Clayton; Dean Cuebas; Ronald J A Wanders
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(5):2128-33.
1998: Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; A Imamura; Toshiro Tsukamoto; Takashi Osumi; K Tateishi; Kanji Okumoto; Yukio Fujiki; Tadao Orii; PG Barth; Ronald J A Wanders; Naomi Kondo
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.
Biochemical and biophysical research communications 1998;243(2):368-71.
1998: Carlo W T van Roermund; Ewald H Hettema; AJ Kal; Marlene van den Berg; Henk F Tabak; Ronald J A Wanders
Peroxisomal beta-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions.
The EMBO journal 1998;17(3):677-87.
1998: André B P van Kuilenburg; Henk Van Lenthe; Ronald J A Wanders; Albert H van Gennip
Subcellular localization of dihydropyrimidine dehydrogenase.
Advances in experimental medicine and biology 1998;431():817-21.
1998: Cesar Casale; Núria Casals; Juan Pié; Nuria Zapater; Celia Pérez-Cerdá; Begoña Merinero; Mercedes Martínez-Pardo; J J García-Peñas; J M García-Gonzalez; R Lama; B T Poll-The; Jan A M Smeitink; Ronald J A Wanders; Magdalena Ugarte; Fausto G Hegardt
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Archives of biochemistry and biophysics 1998;349(1):129-37.
1997: N Verleur; Ewald H Hettema; Carlo W T van Roermund; Henk F Tabak; Ronald J A Wanders
Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system.
European journal of biochemistry / FEBS 1997;249(3):657-61.
1997: Núria Casals; Juan Pié; Cesar Casale; Nuria Zapater; A Ribes; M Castro-Gago; S Rodriguez-Segade; Ronald J A Wanders; Fausto G Hegardt
A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.
Journal of lipid research 1997;38(11):2303-13.
1997: Gerbert Jansen; Rob Ofman; Sacha Ferdinandusse; Lodewijk IJlst; Anton O Muijsers; OH Skjeldal; OH Stokke; Cornelis Jakobs; G T N Besley; James Wraith; Ronald J A Wanders
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nature genetics 1997;17(2):190-3.
1997: André B P van Kuilenburg; Henk Van Lenthe; Ronald J A Wanders; Albert H van Gennip
Subcellular localization of dihydropyrimidine dehydrogenase.
Biological chemistry 1997;378(9):1047-53.
1997: Ronald J A Wanders; L Vilarinho; H P Hartung; Georg F Hoffmann; P A Mooijer; Gerbert Jansen; Jan G M Huijmans; J B C de Klerk; Herman J Ten Brink; Cornelis Jakobs; Marinus Duran
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.
Journal of inherited metabolic disease 1997;20(5):725-6.
1997: Ronald J A Wanders; Simone Denis; FS Wouters; Karel W A Wirtz; Udo Seedorf
Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes.
Biochemical and biophysical research communications 1997;236(3):565-9.
1997: Gerbert Jansen; Ronald J A Wanders; Paul A Watkins; Stephanie J Mihalik
Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.
The New England journal of medicine 1997;337(2):133-4.
1997: Gerbert Jansen; Stephanie J Mihalik; Paul A Watkins; Hugo W Moser; Cornelis Jakobs; Hugo S A Heijmans; Ronald J A Wanders
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Journal of inherited metabolic disease 1997;20(3):444-6.
1997: Elisabeth G van Grunsven; Ronald J A Wanders
Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects.
Journal of inherited metabolic disease 1997;20(3):437-40.
1997: Ronald J A Wanders; Gerrit Jan Romeijn; Frits A Wijburg; Raoul Hennekam; J de Jong; Ron A Wevers; Georges Dacremont
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.
Journal of inherited metabolic disease 1997;20(3):432-6.
1997: Fátima V Ventura; CG Costa; Lodewijk IJlst; L Dorland; Marinus Duran; Cornelis Jakobs; Isabel Tavares de Almeida; Ronald J A Wanders
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.
Journal of inherited metabolic disease 1997;20(3):423-6.
1997: Lodewijk IJlst; Wendy Oostheim; Jos P N Ruiter; Ronald J A Wanders
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
Journal of inherited metabolic disease 1997;20(3):420-2.
1997: Margarida F B Silva; Jos P N Ruiter; L Illst; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro.
Journal of inherited metabolic disease 1997;20(3):397-400.
1997: Bjorn M Van Geel; Johanna Assies; Ronald J A Wanders; Peter G Barth
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
Journal of neurology, neurosurgery, and psychiatry 1997;63(1):4-14.
1997: Elisabeth G van Grunsven; Carlo W T van Roermund; Simone Denis; Ronald J A Wanders
Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.
Biochemical and biophysical research communications 1997;235(1):176-9.
1997: XQ Song; Toshiyuki Fukao; Grant A Mitchell; S Kassovska-Bratinova; Magdalena Ugarte; Ronald J A Wanders; K Hirayama; H Shintaku; P Churchill; H Watanabe; Tadao Orii; Naomi Kondo
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.
Biochimica et biophysica acta 1997;1360(2):151-6.
1997: Math J H Geelen; C Bijleveld; Guillermo Velasco; Ronald J A Wanders; M Guzmán
Studies on the intracellular localization of acetyl-CoA carboxylase.
Biochemical and biophysical research communications 1997;233(1):253-7.
1997: Alison M Motley; Ewald H Hettema; Eveline M Hogenhout; Pedro Brites; A L ten Asbroek; Frits A Wijburg; Frank Baas; Hugo S A Heijmans; Henk F Tabak; Ronald J A Wanders; Ben Distel
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Nature genetics 1997;15(4):377-80.