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Ronald Wanders
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78
Waterham, Hans
51
IJlst, Lodewijk
36
Duran, Marinus
34
Ruiter, Jos
29
Ferdinandusse, Sacha
27
Denis, Simone
23
Jansen, Gerbert
22
Vreken, Peter
22
Wijburg, Frits
22
van Roermund, Carlo
22
Ofman, Rob
22
Barth, Peter
21
Jakobs, Cornelis
20
Kondo, Naomi
20
Shimozawa, Nobuyuki
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All Publications
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2009: Nijland Roel; Hartog Francis E; Wevers Ron A; Wanders Ronald J A; Willemsen Wim N P
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.
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2009: Chegary Malika; Brinke Heleen te; Ruiter Jos P N; Wijburg Frits A; Stoll Maria S K; Minkler Paul E; van Weeghel Michel; Schulz Horst; Hoppel Charles L; Wanders Ronald J A; Houten Sander M
Mitochondrial long chain fatty acid beta-oxidation in man and mouse.
Biochimica et biophysica acta 2009;1791(8):806-15.
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2009: Strijbis Karin; van Roermund Carlo W T; Hardy Guy P; van den Burg Janny; Bloem Karien; de Haan Jolanda; van Vlies Naomi; Wanders Ronald J A; Vaz Frédéric M; Distel Ben
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009;23(8):2349-59.
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2009: Scheuerman Oded; Wanders Ronald J A; Waterham Hans R; Dubnov-Raz Gal; Garty Ben-Zion
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
Pediatric neurology 2009;40(6):465-7.
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2009: Law Lap-Kay; Tang Nelson L S; Hui Joannie; Fung Simon L M; Ruiter Jos; Wanders Ronald J A; Fok Tai-Fai; Lam Christopher W K
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.
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2009: Greenberg Cheryl R; Dilling Louise A; Thompson G Robert; Seargeant Lorne E; Haworth James C; Phillips Susan; Chan Alicia; Vallance Hilary D; Waters Paula J; Sinclair Graham; Lillquist Yolanda; Wanders Ronald J A; Olpin Simon E
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
Molecular genetics and metabolism 2009;96(4):201-7.
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2009: Ferdinandusse Sacha; Denis Simone; Dacremont Georges; Wanders Ronald J A
Toxicity of peroxisomal C27-bile acid intermediates.
Molecular genetics and metabolism 2009;96(3):121-8.
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2009: Sanders Robert-Jan; Ofman Rob; Dekker Conny; Kemp Stephan; Wanders Ronald J A
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.
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2009: Brites Pedro; Mooyer Petra A W; El Mrabet Leila; Waterham Hans R; Wanders Ronald J A
Plasmalogens participate in very-long-chain fatty acid-induced pathology.
Brain : a journal of neurology 2009;132(Pt 2):482-92.
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2009: Fourcade Stéphane; Ruiz Montserrat; Camps Carme; Schlüter Agatha; Houten Sander M; Mooyer Petra A W; Pàmpols Teresa; Dacremont Georges; Wanders Ronald J A; Giròs Marisa; Pujol Aurora
A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.
American journal of physiology. Endocrinology and metabolism 2009;296(1):E211-21.
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2009: Ebberink Merel S; Mooyer Petra A W; Koster Janet; Dekker Conny J M; Eyskens François J M; Dionisi-Vici Carlo; Clayton Peter T; Barth Peter G; Wanders Ronald J A; Waterham Hans R
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
Human mutation 2009;30(1):93-8.
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2008: van Roermund Carlo W T; Visser Wouter F; Ijlst Lodewijk; van Cruchten Arno; Boek Maxim; Kulik Wim; Waterham Hans R; Wanders Ronald J A
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(12):4201-8.
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2008: Ferdinandusse Sacha; Zomer Anna W M; Komen Jasper C; van den Brink Christina E; Thanos Melissa; Hamers Frank P T; Wanders Ronald J A; van der Saag Paul T; Poll-The Bwee Tien; Brites Pedro
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.
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2008: Gonzalvez Francois; Schug Zachary T; Houtkooper Riekelt H; MacKenzie Elaine D; Brooks David G; Wanders Ronald J A; Petit Patrice X; Vaz Frédéric M; Gottlieb Eyal
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.
The Journal of cell biology 2008;183(4):681-96.
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2008: Illsinger Sabine; Lücke Thomas; Peter Michael; Ruiter Jos P N; Wanders Ronald J A; Deschauer Marcus; Handig Ingrid; Wuyts Wim; Das Anibh M
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.
American journal of medical genetics. Part A 2008;146A(22):2925-8.
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2008: De Feyter Henk M; Lenaers Ellen; Houten Sander M; Schrauwen Patrick; Hesselink Matthijs K; Wanders Ronald J A; Nicolay Klaas; Prompers Jeanine J
Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(11):3947-55.
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2008: Aires Cátia C P; Soveral Graça; Luís Paula B M; ten Brink Herman J; de Almeida Isabel Tavares; Duran Marinus; Wanders Ronald J A; Silva Margarida F B
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes.
FEBS letters 2008;582(23-24):3359-66.
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2008: Carrozzo Rosalba; Bellini Carlo; Lucioli Simona; Deodato Federica; Cassandrini Denise; Cassanello Michela; Caruso Ubaldo; Rizzo Cristiano; Rizza Teresa; Napolitano Matteo L; Wanders Ronald J A; Jakobs Cornelis; Bruno Claudio; Santorelli Filippo M; Dionisi-Vici Carlo; Bonioli Eugenio
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
American journal of medical genetics. Part A 2008;146A(13):1676-81.
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2008: Sanders Robert-Jan; Ofman Rob; Dacremont Georges; Wanders Ronald J A; Kemp Stephan
Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(6):2064-71.
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2008: Chegary Malika; Te Brinke Heleen; Doolaard Mirjam; Ijlst Lodewijk; Wijburg Frits A; Wanders Ronald J A; Houten Sander M
Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
Molecular genetics and metabolism 2008;93(4):403-10.
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2007: Wiese Sebastian; Gronemeyer Thomas; Ofman Rob; Kunze Markus; Grou Cláudia P; Almeida José A; Eisenacher Martin; Stephan Christian; Hayen Heiko; Schollenberger Lukas; Korosec Thomas; Waterham Hans R; Schliebs Wolfgang; Erdmann Ralf; Berger Johannes; Meyer Helmut E; Just Wilhelm; Azevedo Jorge E; Wanders Ronald J A; Warscheid Bettina
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling.
Molecular & cellular proteomics : MCP 2007;6(12):2045-57.
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2007: van Vlies Naomi; Ofman Rob; Wanders Ronald J A; Vaz Frédéric M
Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis.
The FEBS journal 2007;274(22):5845-51.
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2007: Lloyd Matthew D; Boardman Kieren D E; Smith Andrew; van den Brink Daan M; Wanders Ronald J A; Threadgill Michael D
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
Journal of enzyme inhibition and medicinal chemistry 2007;22(5):584-90.
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2007: Aliefendioglu Didem; Dursun Ali; Coskun Turgay; Akçören Zuhal; Wanders Ronald J A; Waterham Hans R
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.
European journal of pediatrics 2007;166(10):1077-80.
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2007: Luís Paula B M; Ruiter Jos P N; Aires Cátia C P; Soveral Graça; de Almeida Isabel Tavares; Duran Marinus; Wanders Ronald J A; Silva Margarida F B
Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation.
Biochimica et biophysica acta 2007;1767(9):1126-33.
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2007: Turner Claire L S; Bunyan David J; Thomas N Simon; Mackay Deborah J G; Jones Huw P; Waterham Hans R; Wanders Ronald J A; Temple I Karen
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
American journal of medical genetics. Part A 2007;143A(18):2172-7.
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2007: van Vlies Naomi; Ferdinandusse Sacha; Turkenburg Marjolein; Wanders Ronald J A; Vaz Frédéric M
PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation.
Biochimica et biophysica acta 2007;1767(9):1134-42.
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2007: Ferdinandusse Sacha; Denis Simone; Hogenhout Eveline M; Koster Janet; van Roermund Carlo W T; IJlst Lodewijk; Moser Ann B; Wanders Ronald J A; Waterham Hans R
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Human mutation 2007;28(9):904-12.
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2007: van Woerden Christiaan S; Groothoff Jaap W; Wijburg Frits A; Waterham Hans R; Wanders Ronald J A; Janssen Marcel J W; Duran Marinus
Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis.
Clinical chemistry 2007;53(8):1553-5.
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2007: Law Lap-Kay; Tang Nelson Leung-Sang; Hui Joannie; Ho Chung-Shun; Ruiter Jos; Fok Tai-Fai; Wanders Ronald J A; Lam Christopher Wai-Kei
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.
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2007: Visser Wouter F; van Roermund Carlo W T; Ijlst Lodewijk; Waterham Hans R; Wanders Ronald J A
Demonstration of bile acid transport across the mammalian peroxisomal membrane.
Biochemical and biophysical research communications 2007;357(2):335-40.
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2007: Carnell Andrew J; Hale Ian; Denis Simone; Wanders Ronald J A; Isaacs William B; Wilson Brice A; Ferdinandusse Sacha
Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors.
Journal of medicinal chemistry 2007;50(11):2700-7.
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2007: Waterham Hans R; Koster Janet; van Roermund Carlo W T; Mooyer Petra A W; Wanders Ronald J A; Leonard James V
A lethal defect of mitochondrial and peroxisomal fission.
The New England journal of medicine 2007;356(17):1736-41.
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2007: Keane Megan H; Overmars Henk; Wikander Thomas M; Ferdinandusse Sacha; Duran Marinus; Wanders Ronald J A; Faust Phyllis L
Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice.
Hepatology (Baltimore, Md.) 2007;45(4):982-97.
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2007: Aires Cátia C P; Ruiter Jos P N; Luís Paula B M; ten Brink Herman J; Ijlst Lodewijk; de Almeida Isabel Tavares; Duran Marinus; Wanders Ronald J A; Silva Margarida F B
Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acids.
Biochimica et biophysica acta 2007;1771(4):533-43.
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2007: Sakurai Satomi; Fukao Toshiyuki; Haapalainen Antti M; Zhang Gaixiu; Yamada Keitaro; Lilliu Franco; Yano Shoji; Robinson Peter; Gibson Michael K; Wanders Ronald J A; Mitchell Grant A; Wierenga Rik K; Kondo Naomi
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.
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2007: Yamada Keitaro; Fukao Toshiyuki; Zhang Gaixiu; Sakurai Satomi; Ruiter Jos P N; Wanders Ronald J A; Kondo Naomi
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.
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2007: Kemp Stephan; Wanders Ronald J A
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.
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2007: Lenski Claus; Kooy R Frank; Reyniers Edwin; Loessner Daniela; Wanders Ronald J A; Winnepenninckx Birgitta; Hellebrand Heide; Engert Stefanie; Schwartz Charles E; Meindl Alfons; Ramser Juliane
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.
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2007: Wanders Ronald J A; Visser Wouter F; van Roermund Carlo W T; Kemp Stephan; Waterham Hans R
The peroxisomal ABC transporter family.
Pflügers Archiv : European journal of physiology 2007;453(5):719-34.
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2007: Visser Wouter F; van Roermund Carlo W T; Ijlst Lodewijk; Waterham Hans R; Wanders Ronald J A
Metabolite transport across the peroxisomal membrane.
The Biochemical journal 2007;401(2):365-75.
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2007: Loupatty Ference J; Clayton Peter T; Ruiter Jos P N; Ofman Rob; Ijlst Lodewijk; Brown Garry K; Thorburn David R; Harris Robert A; Duran Marinus; Desousa Carlos; Krywawych Steve; Heales Simon J R; Wanders Ronald J A
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
American journal of human genetics 2007;80(1):195-9.
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2007: Ventura Fátima V; Tavares de Almeida Isabel; Wanders Ronald J A
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.
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2007: Schlüter Agatha; Fourcade Stéphane; Domènech-Estévez Enric; Gabaldón Toni; Huerta-Cepas Jaime; Berthommier Guillaume; Ripp Raymond; Wanders Ronald J A; Poch Olivier; Pujol Aurora
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.
Nucleic acids research 2007;35(Database issue):D815-22.
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2007: Law L K; Tang N L S; Lam C W K; Tong Matthew K H; Mak Tony W L; Zhang W M; Wanders Ronald J A
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.
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2007: van Vlies Naomi; Ruiter Jos P N; Doolaard Mirjam; Wanders Ronald J A; Vaz Frédéric M
An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.
Molecular genetics and metabolism 2007;90(1):24-9.
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2007: Zeharia Avraham; Ebberink Merel S; Wanders Ronald J A; Waterham Hans R; Gutman Alisa; Nissenkorn Andreea; Korman Stanley H
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.
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2006: van Baal Jantine W P M; Diks Sander H; Wanders Ronald J A; Rygiel Agnieskza M; Milano Francesca; Joore Jos; Bergman Jacques J G H M; Peppelenbosch Maikel P; Krishnadath Kausilia K
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia.
Cancer research 2006;66(24):11605-12.
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2006: Wanders Ronald J A; Waterham Hans R
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
Biochimica et biophysica acta 2006;1763(12):1707-20.
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2006: Jansen Gerbert A; Wanders Ronald J A
Alpha-oxidation.
Biochimica et biophysica acta 2006;1763(12):1403-12.
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2006: Linnebank Michael; Semmler Alexander; Kleijer Wim J; van der Sterre Marianne L T; Gärtner Jutta; Fliessbach Klaus; Sokolowski Piotr; Köhler Wolfgang; Schlegel Uwe; Klockgether Thomas; Wanders Ronald J A; Schmidt Stephan; Wüllner Ullrich; Kemp Stephan
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Human mutation 2006;27(10):1063-4.
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2006: Visser Wouter F; van Roermund Carlo W T; Ijlst Lodewijk; Hellingwerf Klaas J; Waterham Hans R; Wanders Ronald J A
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.
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2006: Liebig Michaela; Schymik Ina; Mueller Martina; Wendel Udo; Mayatepek Ertan; Ruiter Jos; Strauss Arnold W; Wanders Ronald J A; Spiekerkoetter Ute
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.
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2006: Pedersen Christina B; Bischoff Claus; Christensen Ernst; Simonsen Henrik; Lund Allan M; Young Sarah P; Koeberl Dwight D; Millington David S; Roe Charles R; Roe Diane S; Wanders Ronald J A; Ruiter Jos P N; Keppen Laura D; Stein Quinn; Knudsen Inga; Gregersen Niels; Andresen Brage S
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
Pediatric research 2006;60(3):315-20.
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2006: van Maldegem Bianca T; Duran Marinus; Wanders Ronald J A; Niezen-Koning Klary E; Hogeveen Marije; Ijlst Lodewijk; Waterham Hans R; Wijburg Frits A
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.
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2006: Di Rosa Gabriella; Deodato Federica; Loupatty Ference J; Rizzo Cristiano; Carrozzo Rosalba; Santorelli Filippo M; Boenzi Sara; D'Amico Adele; Tozzi Giulia; Bertini Enrico; Maiorana Andrea; Wanders Ronald J A; Dionisi-Vici Carlo
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Journal of inherited metabolic disease 2006;29(4):546-50.
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2006: van Woerden Christiaan S; Groothoff Jaap W; Wijburg Frits A; Duran Marinus; Wanders Ronald J A; Barth Peter G; Poll-The Bwee Tien
High incidence of hyperoxaluria in generalized peroxisomal disorders.
Molecular genetics and metabolism 2006;88(4):346-50.
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2006: Schymik Ina; Liebig Michaela; Mueller Martina; Wendel Udo; Mayatepek Ertan; Strauss Arnold W; Wanders Ronald J A; Spiekerkoetter Ute
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.
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2006: Schneiders Marit S; Houten Sander M; Turkenburg Marjolein; Wanders Ronald J A; Waterham Hans R
Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency.
Arthritis and rheumatism 2006;54(7):2306-13.
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2006: van Vlies Naomi; Wanders Ronald J A; Vaz Frédéric M
Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat.
Analytical biochemistry 2006;354(1):132-9.
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2006: Bunik Victoria I; Raddatz Günter; Wanders Ronald J A; Reiser Georg
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.
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2006: Timmermans Eveline C; Tebas Pablo; Ruiter Jos P N; Wanders Ronald J A; de Ronde Anthony; de Baar Michel P
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.
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2006: Houtkooper Riekelt H; Akbari Hana; van Lenthe Henk; Kulik Willem; Wanders Ronald J A; Frentzen Margrit; Vaz Frédéric M
Identification and characterization of human cardiolipin synthase.
FEBS letters 2006;580(13):3059-64.
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2006: Sanders Robert-Jan; Ofman Rob; Duran Marinus; Kemp Stephan; Wanders Ronald J A
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.
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2006: Engelke Udo F H; Kremer Berry; Kluijtmans Leo A J; van der Graaf Marinette; Morava Eva; Loupatty Ference J; Wanders Ronald J A; Moskau Detlef; Loss Sandra; van den Bergh Erik; Wevers Ron A
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.
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2006: Loupatty Ference J; van der Steen Annemarie; Ijlst Lodewijk; Ruiter Jos P N; Ofman Rob; Baumgartner Matthias R; Ballhausen Diana; Yamaguchi Seiji; Duran Marinus; Wanders Ronald J A
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Molecular genetics and metabolism 2006;87(3):243-8.
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2006: Das Anibh M; Illsinger Sabine; Lücke Thomas; Hartmann Hans; Ruiter Jos P N; Steuerwald Ulrike; Waterham Hans R; Duran Marinus; Wanders Ronald J A
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
Clinical chemistry 2006;52(3):530-4.
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2006: Gueugnon Fabien; Volodina Natalia; Taouil Jaoued Et; Lopez Tatiana E; Gondcaille Catherine; Grand Anabelle Sequeira-Le; Mooijer Petra A W; Kemp Stephan; Wanders Ronald J A; Savary Stéphane
A novel cell model to study the function of the adrenoleukodystrophy-related protein.
Biochemical and biophysical research communications 2006;341(1):150-7.
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2006: Oey Nadia A; Ruiter Jos P N; Attié-Bitach Tania; Ijlst Lodewijk; Wanders Ronald J A; Wijburg Frits A
Fatty acid oxidation in the human fetus: implications for fetal and adult disease.
Journal of inherited metabolic disease 2006;29(1):71-5.
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2006: Haimi Motti; Elhasid Ronit; Gershoni-Baruch Ruth; Izraeli Shai; Wanders Ronald J A; Mandel Hanna
Myeloid dysplasia in familial 3-methylglutaconic aciduria.
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology 2006;28(2):69-72.
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2006: Madsen Pia Pinholt; Kibaek Maria; Roca Xavier; Sachidanandam Ravi; Krainer Adrian R; Christensen Ernst; Steiner Robert D; Gibson K Michael; Corydon Thomas J; Knudsen Inga; Wanders Ronald J A; Ruiter Jos P N; Gregersen Niels; Andresen Brage Storstein
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.
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2006: Ferdinandusse Sacha; Ylianttila Mari S; Gloerich Jolein; Koski M Kristian; Oostheim Wendy; Waterham Hans R; Hiltunen J Kalervo; Wanders Ronald J A; Glumoff Tuomo
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
American journal of human genetics 2006;78(1):112-24.
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2006: Ferdinandusse Sacha; Denis Simone; Mooyer Petra A W; Dekker Conny; Duran Marinus; Soorani-Lunsing Roelineke J; Boltshauser Eugen; Macaya Alfons; Gärtner Jutta; Majoie Charles B L M; Barth Peter G; Wanders Ronald J A; Poll-The Bwee Tien
Clinical and biochemical spectrum of D-bifunctional protein deficiency.
Annals of neurology 2006;59(1):92-104.
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2006: Ofman Rob; Speijer Dave; Leen René; Wanders Ronald J A
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.
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2006: Wanders Ronald J A; Waterham Hans R
Biochemistry of mammalian peroxisomes revisited.
Annual review of biochemistry 2006;75():295-332.
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2005: Kashiwayama Yoshinori; Asahina Kota; Shibata Hiroyuki; Morita Masashi; Muntau Ania C; Roscher Adelbert A; Wanders Ronald J A; Shimozawa Nobuyuki; Sakaguchi Masao; Kato Hiroaki; Imanaka Tsuneo
Role of Pex19p in the targeting of PMP70 to peroxisome.
Biochimica et biophysica acta 2005;1746(2):116-28.
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2005: Ferrer Isidre; Kapfhammer Josef P; Hindelang Colette; Kemp Stephan; Troffer-Charlier Nathalie; Broccoli Vania; Callyzot Noëlle; Mooyer Petra; Selhorst Jacqueline; Vreken Peter; Wanders Ronald J A; Mandel Jean Louis; Pujol Aurora
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.
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2005: Spaan András N; Ijlst Lodewijk; van Roermund Carlo W T; Wijburg Frits A; Wanders Ronald J A; Waterham Hans R
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.
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2005: Korman Stanley H; Waterham Hans R; Gutman Alisa; Jakobs Cornelis; Wanders Ronald J A
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Molecular genetics and metabolism 2005;86(3):337-43.
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2005: Perez-Cerda Celia; García-Villoria Judit; Ofman Rob; Sala Pedro Ruiz; Merinero Begoña; Ramos Julio; García-Silva Maria Teresa; Beseler Beatriz; Dalmau Jaime; Wanders Ronald J A; Ugarte Magdalena; Ribes Antonia
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.
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2005: Monfregola Jlenia; Cevenini Armando; Terracciano Antonio; van Vlies Naomi; Arbucci Salvatore; Wanders Ronald J A; D'Urso Michele; Vaz Frédéric M; Ursini Matilde Valeria
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.
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2005: Hashimoto Kazuyuki; Kato Zenichiro; Nagase Tomoko; Shimozawa Nobuyuki; Kuwata Kazuo; Omoya Kentaro; Li Ailian; Matsukuma Eiji; Yamamoto Yutaka; Ohnishi Hidenori; Tochio Hidehito; Shirakawa Masahiro; Suzuki Yasuyuki; Wanders Ronald J A; Kondo Naomi
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.
Pediatric research 2005;58(2):263-9.
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2005: Visser Wouter F; Van Roermund Carlo W; Ijlst Lodewijk; Hellingwerf Klaas J; Wanders Ronald J A; Waterham Hans R
Demonstration and characterization of phosphate transport in mammalian peroxisomes.
The Biochemical journal 2005;389(Pt 3):717-22.
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2005: van Karnebeek Clara D M; Scheper Frederike Y; Abeling Nico G; Alders Marielle; Barth Peter G; Hoovers Jan M N; Koevoets Cindy; Wanders Ronald J A; Hennekam Raoul C M
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.
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2005: van den Brink Daan M; van Miert Joram N I; Dacremont Georges; Rontani Jean-François; Wanders Ronald J A
Characterization of the final step in the conversion of phytol into phytanic acid.
The Journal of biological chemistry 2005;280(29):26838-44.
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2005: Oey Nadia A; Ijlst Lodewijk; van Roermund Carlo W T; Wijburg Frits A; Wanders Ronald J A
dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.
Molecular genetics and metabolism 2005;85(2):121-4.
-
2005: Sander Johannes; Sander Stefanie; Steuerwald Ulrike; Janzen Nils; Peter Michael; Wanders Ronald J A; Marquardt Iris; Korenke G Christoph; Das Anibh M
Neonatal screening for defects of the mitochondrial trifunctional protein.
Molecular genetics and metabolism 2005;85(2):108-14.
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2005: Oey Nadia A; den Boer Margarethe E J; Wijburg Frits A; Vekemans Michel; Augé Joëlle; Steiner Céline; Wanders Ronald J A; Waterham Hans R; Ruiter Jos P N; Attié-Bitach Tania
Long-chain fatty acid oxidation during early human development.
Pediatric research 2005;57(6):755-9.
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2005: Valianpour Fredoen; Mitsakos Voula; Schlemmer Dimitri; Towbin Jeffrey A; Taylor Juliet M; Ekert Paul G; Thorburn David R; Munnich Arnold; Wanders Ronald J A; Barth Peter G; Vaz Frédéric M
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.
Journal of lipid research 2005;46(6):1182-95.
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2005: Frishberg Yaacov; Rinat Choni; Shalata Adel; Khatib Ihab; Feinstein Sofia; Becker-Cohen Rachel; Weismann Irit; Wanders Ronald J A; Rumsby Gill; Roels Frank; Mandel Hanna
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.
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2005: Bosch Annet M; Ijlst Lodewijk; Oostheim Wendy; Mulders Joyce; Bakker Henk D; Wijburg Frits A; Wanders Ronald J A; Waterham Hans R
Identification of novel mutations in classical galactosemia.
Human mutation 2005;25(5):502.
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2005: Ferdinandusse Sacha; Denis Simone; Overmars Henk; Van Eeckhoudt Lisbeth; Van Veldhoven Paul P; Duran Marinus; Wanders Ronald J A; Baes Myriam
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: Sanders Robert-Jan; Ofman Rob; Valianpour Fredoen; Kemp Stephan; Wanders Ronald J A
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: van Vlies Naomi; Tian Liqun; Overmars Henk; Bootsma Albert H; Kulik Willem; Wanders Ronald J A; Wood Philip A; Vaz Frédéric M
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: Kemp Stephan; Valianpour Fredoen; Denis Simone; Ofman Rob; Sanders Robert-Jan; Mooyer Petra; Barth Peter G; Wanders Ronald J A
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.
Molecular genetics and metabolism 2005;84(2):144-51.
-
2005: van den Brink Daan M; van Miert Joram M; Wanders Ronald J A
Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation.
Clinical chemistry 2005;51(1):240-2.
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2005: Soorani-Lunsing R J; van Spronsen F J; Stolte-Dijkstra I; Wanders R J; Ferdinandusse S; Waterham H R; Poll-The B T; Rake J P
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.
-
2004: Bischof Felix; Nägele Thomas; Wanders Ronald J A; Trefz Friedrich K; Melms Arthur
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
Annals of neurology 2004;56(5):727-30.
-
2004: Silva Margarida F B; Ijlst Lodewijk; Allers Paul; Jakobs Cornelis; Duran Marinus; de Almeida Isabel Tavares; Wanders Ronald J A
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.
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2004: Topçu Meral; Jobard Florence; Halliez Sophie; Coskun Turgay; Yalçinkayal Cengiz; Gerceker Filiz Ozbas; Wanders Ronald J A; Prud'homme Jean-François; Lathrop Mark; Ozguc Meral; Fischer Judith
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Human molecular genetics 2004;13(22):2803-11.
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2004: Kemp Stephan; Valianpour Fredoen; Mooyer Petra A W; Kulik Willem; Wanders Ronald J A
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: Ma Lining; Vaz Frederic M; Gu Zhiming; Wanders Ronald J A; Greenberg Miriam L
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.
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2004: van Roermund Carlo W T; de Jong Mark; IJlst Lodewijk; van Marle Jan; Dansen Tobias B; Wanders Ronald J A; Waterham Hans R
The peroxisomal lumen in Saccharomyces cerevisiae is alkaline.
Journal of cell science 2004;117(Pt 18):4231-7.
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2004: Michelakakis Helen M; Zafeiriou Dimitrios I; Moraitou Marina S; Gootjes Jeannette; Wanders Ronald J A
PEX1 deficiency presenting as Leber congenital amaurosis.
Pediatric neurology 2004;31(2):146-9.
-
2004: van Woerden Christiaan S; Groothoff Jaap W; Wijburg Frits A; Annink Carla; Wanders Ronald J A; Waterham Hans R
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
Kidney international 2004;66(2):746-52.
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2004: Gootjes Jeannette; Schmohl Frank; Mooijer Petra A W; Dekker Conny; Mandel Hanna; Topcu Meral; Huemer Martina; Von Schütz M; Marquardt Thorsten; Smeitink Jan A; Waterham Hans R; Wanders Ronald J A
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.
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2004: Loupatty Ference J; Ruiter Jos P N; IJlst Lodewijk; Duran Marinus; Wanders Ronald J A
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: Mayatepek Ertan; Ferdinandusse Sacha; Meissner Thomas; Wanders Ronald J A
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.
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2004: Shimozawa Nobuyuki; Tsukamoto Toshiro; Nagase Tomoko; Takemoto Yasuhiko; Koyama Naoki; Suzuki Yasuyuki; Komori Masayuki; Osumi Takashi; Jeannette Gootjes; Wanders Ronald J A; Kondo Naomi
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: Ferdinandusse Sacha; Denis Simone; Van Roermund Carlo W T; Wanders Ronald J A; Dacremont Georges
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: Rijlaarsdam Renske S; van Spronsen Francjan J; Bink-Boelkens Margreet Th E; Reijngoud Dirk-Jan; Wanders Ronald J A; Niezen-Koning Klary E; Van der Sluijs Fjodor H; Dorland Bert; Beaufort-Krol Gertie C M
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.
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2004: van den Brink Daan M; van Miert Joram N I; Dacremont Georges; Rontani Jean-François; Jansen Gerbert A; Wanders Ronald J A
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.
Molecular genetics and metabolism 2004;82(1):33-7.
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2004: Wanders Ronald J A
Metabolic and molecular basis of peroxisomal disorders: a review.
American journal of medical genetics. Part A 2004;126A(4):355-75.
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2004: Barth Peter G; Valianpour Fredoen; Bowen Valerie M; Lam Jan; Duran Marinus; Vaz Frédéric M; Wanders Ronald J A
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.
American journal of medical genetics. Part A 2004;126A(4):349-54.
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2004: Poll-The Bwee Tien; Gootjes Jeannette; Duran Marinus; De Klerk Johannis B C; Wenniger-Prick Liesbeth J Maillette de Buy; Admiraal Ronald J C; Waterham Hans R; Wanders Ronald J A; Barth Peter G
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.
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2004: Poll-The Bwee Tien; Wanders Ronald J A; Ruiter Jos P N; Ofman Rob; Majoie Charles B L M; Barth Peter G; Duran Marinus
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.
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2004: Hogenboom Sietske; Tuyp John J M; Espeel Marc; Koster Janet; Wanders Ronald J A; Waterham Hans R
Phosphomevalonate kinase is a cytosolic protein in humans.
Journal of lipid research 2004;45(4):697-705.
-
2004: Brites Pedro; Waterham Hans R; Wanders Ronald J A
Functions and biosynthesis of plasmalogens in health and disease.
Biochimica et biophysica acta 2004;1636(2-3):219-31.
-
2004: Jansen Gerbert A; Waterham Hans R; Wanders Ronald J A
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Human mutation 2004;23(3):209-18.
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2004: Hogenboom Sietske; Tuyp John J M; Espeel Marc; Koster Janet; Wanders Ronald J A; Waterham Hans R
Human mevalonate pyrophosphate decarboxylase is localized in the cytosol.
Molecular genetics and metabolism 2004;81(3):216-24.
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2004: Gootjes Jeannette; Elpeleg Orly; Eyskens François; Mandel Hanna; Mitanchez Delphine; Shimozawa Noboyuki; Suzuki Yasuyuki; Waterham Hans R; Wanders Ronald J A
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Pediatric research 2004;55(3):431-6.
-
2004: Hogenboom Sietske; Tuyp John J M; Espeel Marc; Koster Janet; Wanders Ronald J A; Waterham Hans R
Mevalonate kinase is a cytosolic enzyme in humans.
Journal of cell science 2004;117(Pt 4):631-9.
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2004: Gootjes Jeannette; Schmohl Frank; Waterham Hans R; Wanders Ronald J A
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
European journal of human genetics : EJHG 2004;12(2):115-20.
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2004: Gu Zhiming; Valianpour Fredoen; Chen Shuliang; Vaz Frederic M; Hakkaart Gertjan A; Wanders Ronald J A; Greenberg Miriam L
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.
Molecular microbiology 2004;51(1):149-58.
-
2004: Dansen Tobias B; Kops Geert J P L; Denis Simone; Jelluma Nannette; Wanders Ronald J A; Bos Johannes L; Burgering Boudewijn M T; Wirtz Karel W A
Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3a.
Journal of lipid research 2004;45(1):81-8.
-
2003: Schlame Michael; Kelley Richard I; Feigenbaum Annette; Towbin Jeffrey A; Heerdt Paul M; Schieble Thomas; Wanders Ronald J A; DiMauro Salvatore; Blanck Thomas J J
Phospholipid abnormalities in children with Barth syndrome.
Journal of the American College of Cardiology 2003;42(11):1994-9.
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2003: van der Eb Marjolijn M; Geutskens Sacha B; van Kuilenburg André B P; van Lenthe Henk; van Dierendonck Jan-Hein; Kuppen Peter J K; van Ormondt Hans; van de Velde Cornelis J H; Wanders Ronald J A; van Gennip Albert H; Hoeben Rob C
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: Hogenboom Sietske; Wanders Ronald J A; Waterham Hans R
Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts.
Molecular genetics and metabolism 2003;80(3):290-5.
-
2003: Bok Levinus A; Vreken Peter; Wijburg Frits A; Wanders Ronald J A; Gregersen Niels; Corydon Morten J; Waterham Hans R; Duran Marinus
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
Pediatrics 2003;112(5):1152-5.
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2003: Takemoto Yasuhiko; Suzuki Yasuyuki; Horibe Ryoko; Shimozawa Nobuyuki; Wanders Ronald J A; Kondo Naomi
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: Vaz Frédéric M; Houtkooper Riekelt H; Valianpour Fredoen; Barth Peter G; Wanders Ronald J A
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: Ferdinandusse Sacha; Denis Simone; Dacremont Georges; Wanders Ronald J A
Studies on the metabolic fate of n-3 polyunsaturated fatty acids.
Journal of lipid research 2003;44(10):1992-7.
-
2003: Langius Fernanda A A; Waterham Hans R; Romeijn Gerrit Jan; Oostheim Wendy; de Barse Martina M J; Dorland Lambertus; Duran Marinus; Beemer Frits A; Wanders Ronald J A; Poll-The Bwee Tien
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.
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2003: Brites Pedro; Motley Alison M; Gressens Pierre; Mooyer Petra A W; Ploegaert Ingrid; Everts Vincent; Evrard Philippe; Carmeliet Peter; Dewerchin Mieke; Schoonjans Luc; Duran Marinus; Waterham Hans R; Wanders Ronald J A; Baes Myriam
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
Human molecular genetics 2003;12(18):2255-67.
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2003: Mukherji Mridul; Schofield Christopher J; Wierzbicki Anthony S; Jansen Gerbert A; Wanders Ronald J A; Lloyd Matthew D
The chemical biology of branched-chain lipid metabolism.
Progress in lipid research 2003;42(5):359-76.
-
2003: Ferdinandusse Sacha; Finckh Barbara; de Hingh Yvette C; Stroomer Lida E M; Denis Simone; Kohlschütter Alfried; Wanders Ronald J A
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency.
Molecular genetics and metabolism 2003;79(4):281-7.
-
2003: Valianpour Fredoen; Selhorst Jacqueline J M; van Lint Lia E M; van Gennip Albert H; Wanders Ronald J A; Kemp Stephan
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry.
Molecular genetics and metabolism 2003;79(3):189-96.
-
2003: den Boer Margarethe E J; Dionisi-Vici Carlo; Chakrapani Anupam; van Thuijl Anders O J; Wanders Ronald J A; Wijburg Frits A
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: Rizzo Cristiano; Boenzi Sara; Wanders Ronald J A; Duran Marinus; Caruso Ubaldo; Dionisi-Vici Carlo
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: Ofman Rob; Ruiter Jos P N; Feenstra Marike; Duran Marinus; Poll-The Bwee Tien; Zschocke Johannes; Ensenauer Regina; Lehnert Willy; Sass Jörn Oliver; Sperl Wolfgang; Wanders Ronald J A
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: Waterham Hans R; Koster Janet; Mooyer Petra; Noort Gv Gerard van; Kelley Richard I; Wilcox William R; Wanders Ronald J A; Hennekam Raoul C M; Oosterwijk Jan C
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: Wanders Ronald J A; Jansen Gerbert A; Lloyd Matthew D
Phytanic acid alpha-oxidation, new insights into an old problem: a review.
Biochimica et biophysica acta 2003;1631(2):119-35.
-
2003: Gloerich Jolein; Denis Simone; van Grunsven Elisabeth G; Dacremont Georges; Wanders Ronald J A; Ferdinandusse Sacha
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: Houten Sander M; van Woerden Christiaan S; Wijburg Frits A; Wanders Ronald J A; Waterham Hans R
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.
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2003: Prietsch Viola; Mayatepek Ertan; Krastel Hermann; Haas Dorothea; Zundel Dorothee; Waterham Hans R; Wanders Ronald J A; Gibson K Michael; Hoffmann Georg F
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Pediatrics 2003;111(2):258-61.
-
2003: van Woerden Christiaan S; Groothoff Jaap W; Wanders Ronald J A; Davin Jean-Claude; Wijburg Frits A
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: van den Brink Daan M; Brites Pedro; Haasjes Janet; Wierzbicki Anthony S; Mitchell John; Lambert-Hamill Michelle; de Belleroche Jacqueline; Jansen Gerbert A; Waterham Hans R; Wanders Ronald J A
Identification of PEX7 as the second gene involved in Refsum disease.
American journal of human genetics 2003;72(2):471-7.
-
2003: Houten Sander M; Schneiders Marit S; Wanders Ronald J A; Waterham Hans R
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients.
The Journal of biological chemistry 2003;278(8):5736-43.
-
2003: Simadibrata Marcellus; Wanders Ronald J A; Jan Gerrit; Tytgat Guido N J; Lesmana Laurentius A; Daldiyono; Ariawan Iwan
Examination of small bowel enzymes in chronic diarrhea.
Journal of gastroenterology and hepatology 2003;18(1):53-6.
-
2003: Hogenboom Sietske; Romeijn Gerrit Jan; Houten Sander M; Baes Myriam; Wanders Ronald J A; Waterham Hans R
Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis.
Advances in experimental medicine and biology 2003;544():329-30.
-
2003: Wanders Ronald J A; van Roermund Carlo W T; Visser Wouter F; Ferdinandusse Sacha; Jansen Gerbert A; van den Brink Daan M; Gloerich Jolein; Waterham Hans R
Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.
Advances in experimental medicine and biology 2003;544():293-302.
-
2003: Gootjes Jeannette; Mandel Hanna; Mooijer Petra A W; Roels Frank; Waterham Hans R; Wanders Ronald J A
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: Roels Frank; Saudubray Jean-Marie; Giros Marisa; Mandel Hanna; Eyskens François; Saracibar Nieves; Atares Pueyo Begoña; Prats Jose M; De Prest Betty; De Preter Kathleen; Pineda Mercedes; Krystkowiak Pierre; Gootjes Jeannette; Wanders Ronald J A; Espeel Marc; Poll-The Bwee Tien
Peroxisome mosaics.
Advances in experimental medicine and biology 2003;544():97-106.
-
2003: Van den Brink Daan M; Brites Pedro; Haasjes Janet; Wierzbicki Anthony S; Mitchell John; Lambert-Hamill Michelle; de Belleroche Jacqueline; Jansen Gerbert A; Waterham Hans R; Wanders Ronald J A
Identification of PEX7 as the second gene involved in Refsum disease.
Advances in experimental medicine and biology 2003;544():69-70.
-
2003: Gootjes Jeannette; Mooijer Petra A W; Dekker Conny; Barth Peter G; Poll-The Bwee Tien; Waterham Hans R; Wanders Ronald J A
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Advances in experimental medicine and biology 2003;544():67-8.
-
2003: Smeets Roel J P; Smeitink Jan A M; Semmekrot Ben A; Scholte Hans R; Wanders Ronald J A; van den Heuvel Lambert P W J
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
Journal of human genetics 2003;48(1):8-13.
-
2002: Houten Sander M; Frenkel Joost; Rijkers Ger T; Wanders Ronald J A; Kuis Wietse; Waterham Hans R
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: IJlst Lodewijk; Loupatty Ference J; Ruiter Jos P N; Duran Marinus; Lehnert Willy; Wanders Ronald J A
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
American journal of human genetics 2002;71(6):1463-6.
-
2002: Valianpour Fredoen; Wanders Ronald J A; Overmars Henk; Vreken Peter; Van Gennip Albert H; Baas Frank; Plecko Barbara; Santer Rene; Becker Kolja; Barth Peter G
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.
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2002: Okun Jürgen G; Kölker Stefan; Schulze Andreas; Kohlmüller Dirk; Olgemöller Katharina; Lindner Martin; Hoffmann Georg F; Wanders Ronald J A; Mayatepek Ertan
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: Frenkel Joost; Rijkers Ger T; Mandey Saskia H L; Buurman Sandra W M; Houten Sander M; Wanders Ronald J A; Waterham Hans R; Kuis Wietse
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: Valianpour Fredoen; Wanders Ronald J A; Barth Peter G; Overmars Henk; van Gennip Albert H
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: Mihalik Stephanie J; Steinberg Steven J; Pei Zhengtong; Park Joseph; Kim Do G; Heinzer Ann K; Dacremont Georges; Wanders Ronald J A; Cuebas Dean A; Smith Kirby D; Watkins Paul A
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: Vaz Frédéric M; Melegh Bela; Bene Judit; Cuebas Dean; Gage Douglas A; Bootsma Albert; Vreken Peter; van Gennip Albert H; Bieber Loran L; Wanders Ronald J A
Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.
Clinical chemistry 2002;48(6 Pt 1):826-34.
-
2002: Ensenauer Regina; Niederhoff Helmut; Ruiter Jos P N; Wanders Ronald J A; Schwab K Otfried; Brandis Matthias; Lehnert Willy
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Annals of neurology 2002;51(5):656-9.
-
2002: Ferdinandusse Sacha; Meissner Thomas; Wanders Ronald J A; Mayatepek Ertan
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.
Biochemical and biophysical research communications 2002;293(1):269-73.
-
2002: Swiegers Jan H; Vaz Frédéric M; Pretorius Isak S; Wanders Ronald J A; Bauer Florian F
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.
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2002: Raas-Rothschild Annick; Wanders Ronald J A; Mooijer Petra A W; Gootjes Jeannette; Waterham Hans R; Gutman Alisa; Suzuki Yasuyuki; Shimozawa Nobuyuki; Kondo Naomi; Eshel Gideon; Espeel Marc; Roels Frank; Korman Stanley H
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: Shimozawa Nobuyuki; Nagase Tomoko; Takemoto Yasuhiko; Suzuki Yasuyuki; Fujiki Yukio; Wanders Ronald J A; Kondo Naomi
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: Silva Margarida F B; Ruiter Jos P N; Overmars Henk; Bootsma Albert H; van Gennip Albert H; Jakobs Cornelis; Duran Marinus; Tavares de Almeida Isabel; Wanders Ronald J A
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.
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2002: Motley Alison M; Brites Pedro; Gerez Lisya; Hogenhout Eveline; Haasjes Janet; Benne Rob; Tabak Henk F; Wanders Ronald J A; Waterham Hans R
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: Vaz Frédéric M; Wanders Ronald J A
Carnitine biosynthesis in mammals.
The Biochemical journal 2002;361(Pt 3):417-29.
-
2002: Hogenboom Sietske; Romeijn Gerrit Jan; Houten Sander M; Baes Myriam; Wanders Ronald J A; Waterham Hans R
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.
Journal of lipid research 2002;43(1):90-8.
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2002: den Boer Margarethe E J; Wanders Ronald J A; Morris Andrew A M; IJlst Lodewijk; Heymans Hugo S A; Wijburg Frits A
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
Pediatrics 2002;109(1):99-104.
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2001: Barth P G; Gootjes J; Bode H; Vreken P; Majoie C B; Wanders R J
Late onset white matter disease in peroxisome biogenesis disorder.
Neurology 2001;57(11):1949-55.
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2001: Kemp S; Pujol A; Waterham H R; van Geel B M; Boehm C D; Raymond G V; Cutting G R; Wanders R J; Moser H W
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Human mutation 2001;18(6):499-515.
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2001: Ferdinandusse S; Denis S; Mooijer P A; Zhang Z; Reddy J K; Spector A A; Wanders R J
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.
Journal of lipid research 2001;42(12):1987-95.
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2001: Silva M F; Selhorst J; Overmars H; van Gennip A H; Maya M; Wanders R J; de Almeida I T; Duran M
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.
Clinical biochemistry 2001;34(8):635-8.
-
2001: Wanders R J; Jansen G A; Skjeldal O H
Refsum disease, peroxisomes and phytanic acid oxidation: a review.
Journal of neuropathology and experimental neurology 2001;60(11):1021-31.
-
2001: Tang N L; Hui J; Law L K; To K F; Mak T W; Cheung K L; Vreken P; Wanders R J; Fok T F
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.
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2001: Waterham H R; Koster J; Romeijn G J; Hennekam R C; Vreken P; Andersson H C; FitzPatrick D R; Kelley R I; Wanders R J
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.
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2001: Silva M F; Ruiter J P; IJlst L; Jakobs C; Duran M; de Almeida I T; Wanders R J
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: Vaz F M; Ofman R; Westinga K; Back J W; Wanders R J
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.
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2001: Silva M F; Jakobs C; Duran M; de Almeida I T; Wanders R J
Valproate induces in vitro accumulation of long-chain fatty acylcarnitines.
Molecular genetics and metabolism 2001;73(4):358-61.
-
2001: Willemsen M A; IJlst L; Steijlen P M; Rotteveel J J; de Jong J G; van Domburg P H; Mayatepek E; Gabreëls F J; Wanders R J
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.
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2001: van Roermund C W; Drissen R; van Den Berg M; Ijlst L; Hettema E H; Tabak H F; Waterham H R; Wanders R J
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: Walter C; Gootjes J; Mooijer P A; Portsteffen H; Klein C; Waterham H R; Barth P G; Epplen J T; Kunau W H; Wanders R J; Dodt G
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
American journal of human genetics 2001;69(1):35-48.
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2001: Jira P E; Wanders R J; Smeitink J A; De Jong J; Wevers R A; Oostheim W; Tuerlings J H; Hennekam R C; Sengers R C; Waterham H R
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.
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2001: Zschocke J; Schulze A; Lindner M; Fiesel S; Olgemöller K; Hoffmann G F; Penzien J; Ruiter J P; Wanders R J; Mayatepek E
Molecular and functional characterisation of mild MCAD deficiency.
Human genetics 2001;108(5):404-8.
-
2001: Wanders R J; Vreken P; Ferdinandusse S; Jansen G A; Waterham H R; van Roermund C W; Van Grunsven E G
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.
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2001: Jansen G A; van den Brink D M; Ofman R; Draghici O; Dacremont G; Wanders R J
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.
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2001: Houten S M; Koster J; Romeijn G J; Frenkel J; Di Rocco M; Caruso U; Landrieu P; Kelley R I; Kuis W; Poll-The B T; Gibson K M; Wanders R J; Waterham H R
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: Assies J; Lieverse R; Vreken P; Wanders R J; Dingemans P M; Linszen D H
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: Ofman R; Lajmir S; Wanders R J
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: Silva M F; Ruiter J P; IJlst L; Allers P; ten Brink H J; Jakobs C; Duran M; Tavares de Almeida I; Wanders R J
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.
Analytical biochemistry 2001;290(1):60-7.
-
2001: Dansen T B; Pap EHW; Wanders R J; Wirtz K W
Targeted fluorescent probes in peroxisome function.
The Histochemical journal 2001;33(2):65-9.
-
2001: Willemsen M A; Rotteveel J J; de Jong J G; Wanders R J; IJlst L; Hoffmann G F; Mayatepek E
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
Journal of the neurological sciences 2001;183(1):61-7.
-
2001: Möller G; van Grunsven E G; Wanders R J; Adamski J
Molecular basis of D-bifunctional protein deficiency.
Molecular and cellular endocrinology 2001;171(1-2):61-70.
-
2001: IJlst L; van Roermund C W; Iacobazzi V; Oostheim W; Ruiter J P; Williams J C; Palmieri F; Wanders R J
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.
Biochemical and biophysical research communications 2001;280(3):700-6.
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2001: Ferdinandusse S; Overmars H; Denis S; Waterham H R; Wanders R J; Vreken P
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.
Journal of lipid research 2001;42(1):137-41.
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2000: Vreken P; Valianpour F; Nijtmans L G; Grivell L A; Plecko B; Wanders R J; Barth P G
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Biochemical and biophysical research communications 2000;279(2):378-82.
-
2000: Waterham H R; Wanders R J
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
Biochimica et biophysica acta 2000;1529(1-3):340-56.
-
2000: Houten S M; Wanders R J; Waterham H R
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
Biochimica et biophysica acta 2000;1529(1-3):19-32.
-
2000: Zschocke J; Ruiter J P; Brand J; Lindner M; Hoffmann G F; Wanders R J; Mayatepek E
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.
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2000: Ferdinandusse S; Denis S; IJlst L; Dacremont G; Waterham H R; Wanders R J
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.
Journal of lipid research 2000;41(11):1890-6.
-
2000: Andresen B S; Christensen E; Corydon T J; Bross P; Pilgaard B; Wanders R J; Ruiter J P; Simonsen H; Winter V; Knudsen I; Schroeder L D; Gregersen N; Skovby F
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: Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Wanders R J; Kondo N
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: Fukao T; Mitchell G A; Song X Q; Nakamura H; Kassovska-Bratinova S; Orii K E; Wraith J E; Besley G; Wanders R J; Niezen-Koning K E; Berry G T; Palmieri M; Kondo N
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: van Roermund C W; Tabak H F; van Den Berg M; Wanders R J; Hettema E H
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.
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2000: den Boer M E; Ijlst L; Wijburg F A; Oostheim W; van Werkhoven M A; van Pampus M G; Heymans H S; Wanders R J
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.
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2000: Röschinger W; Muntau A C; Duran M; Dorland L; IJlst L; Wanders R J; Roscher A A
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.
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2000: Vreken P; Valianpour F; Overmars H; Barth P G; Selhorst J J; van Gennip A H; Wanders R J
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: Jansen G A; Denis S; Verhoeven N M; Jakobs C; Wanders R J
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: Houten S M; Frenkel J; Kuis W; Wanders R J; Poll-The B T; Waterham H R
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: Poll-The B T; Frenkel J; Houten S M; Kuis W; Duran M; de Koning T J; Dorland L; de Barse M M; Romeijn G J; Wanders R J; Waterham H R
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
Journal of inherited metabolic disease 2000;23(4):363-6.
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2000: Waterham H R; Oostheim W; Romeijn G J; Wanders R J; Hennekam R C
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.
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2000: Jansen G A; Hogenhout E M; Ferdinandusse S; Waterham H R; Ofman R; Jakobs C; Skjeldal O H; Wanders R J
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.
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2000: Drenth J P; Waterham H R; Kuis W; Houten S M; Frenkel J; Wanders R J; Poll-The B T; van der Meer J W
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics]
Nederlands tijdschrift voor geneeskunde 2000;144(17):782-5.
-
2000: IJlst L; de Kromme I; Oostheim W; Wanders R J
Molecular cloning and expression of human L-pipecolate oxidase.
Biochemical and biophysical research communications 2000;270(3):1101-5.
-
2000: Ferdinandusse S; Denis S; van Berkel E; Dacremont G; Wanders R J
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: Vaz F M; Fouchier S W; Ofman R; Sommer M; Wanders R J
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: van Ommen C H; Peters M; Barth P G; Vreken P; Wanders R J; Jaeken J
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: Wanders R J; van Grunsven E G; Jansen G A
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: Dunckelmann R J; Ebinger F; Schulze A; Wanders R J; Rating D; Mayatepek E
2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria.
Neuropediatrics 2000;31(1):35-8.
-
2000: Hurvitz H; Klar A; Korn-Lubetzki I; Wanders R J; Elpeleg O N
Muscular carnitine palmitoyltransferase II deficiency in infancy.
Pediatric neurology 2000;22(2):148-50.
-
2000: Willemsen M A; de Jong J G; van Domburg P H; Rotteveel J J; Wanders R J; Mayatepek E
Sjögren-Larsson syndrome.
The Journal of pediatrics 2000;136(2):261.
-
2000: Willemsen M A; de Jong J G; van Domburg P H; Rotteveel J J; Wanders R J; Mayatepek E
Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome.
The Journal of pediatrics 2000;136(2):258-60.
-
2000: Ferdinandusse S; Denis S; Clayton P T; Graham A; Rees J E; Allen J T; McLean B N; Brown A Y; Vreken P; Waterham H R; Wanders R J
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Nature genetics 2000;24(2):188-91.
-
2000: Shimozawa N; Zhang Z; Imamura A; Suzuki Y; Fujiki Y; Tsukamoto T; Osumi T; Aubourg P; Wanders R J; Kondo N
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: Dansen T B; Wirtz K W; Wanders R J; Pap E H
Peroxisomes in human fibroblasts have a basic pH.
Nature cell biology 2000;2(1):51-3.
-
2000: Wanders R J
Peroxisomes, lipid metabolism, and human disease.
Cell biochemistry and biophysics 2000;32 Spring():89-106.
-
2000: Watanabe H; Orii K E; Fukao T; Song X Q; Aoyama T; IJlst L; Ruiter J; Wanders R J; Kondo N
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.
-
1999: Biermann J; Gootjes J; Wanders R J; van den Bosch H
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.
IUBMB life 1999;48(6):635-9.
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1999: Jansen G A; Ofman R; Denis S; Ferdinandusse S; Hogenhout E M; Jakobs C; Wanders R J
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.
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1999: de Vet E C; Ijlst L; Oostheim W; Dekker C; Moser H W; van Den Bosch H; Wanders R J
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
Journal of lipid research 1999;40(11):1998-2003.
-
1999: van Roermund C W; Hettema E H; van den Berg M; Tabak H F; Wanders R J
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: Rinat C; Wanders R J; Drukker A; Halle D; Frishberg Y
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.
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1999: Shimozawa N; Imamura A; Zhang Z; Suzuki Y; Orii T; Tsukamoto T; Osumi T; Fujiki Y; Wanders R J; Besley G; Kondo N
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.
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1999: Lissens W; Vreken P; Barth P G; Wijburg F A; Ruitenbeek W; Wanders R J; Seneca S; Liebaers I; De Meirleir L
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
European journal of pediatrics 1999;158(10):853-7.
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1999: Jansen G A; Verhoeven N M; Denis S; Romeijn G; Jakobs C; ten Brink H J; Wanders R J
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: Ferdinandusse S; Mulders J; IJlst L; Denis S; Dacremont G; Waterham H R; Wanders R J
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.
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1999: van Geel B M; Assies J; Haverkort E B; Koelman J H; Verbeeten B; Wanders R J; Barth P G
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: Toyama R; Mukai S; Itagaki A; Tamura S; Shimozawa N; Suzuki Y; Kondo N; Wanders R J; Fujiki Y
Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.
Human molecular genetics 1999;8(9):1673-81.
-
1999: Shimozawa N; Zhang Z; Suzuki Y; Imamura A; Tsukamoto T; Osumi T; Fujiki Y; Orii T; Barth P G; Wanders R J; Kondo N
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
Biochemical and biophysical research communications 1999;262(2):504-8.
-
1999: Houten S M; Romeijn G J; Koster J; Gray R G; Darbyshire P; Smit G P; de Klerk J B; Duran M; Gibson K M; Wanders R J; Waterham H R
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: van Grunsven E G; Mooijer P A; Aubourg P; Wanders R J
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
Human molecular genetics 1999;8(8):1509-16.
-
1999: Vaz F M; Scholte H R; Ruiter J; Hussaarts-Odijk L M; Pereira R R; Schweitzer S; de Klerk J B; Waterham H R; Wanders R J
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
Human genetics 1999;105(1-2):157-61.
-
1999: Ofman R; Hogenhout E M; Wanders R J
Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase.
Biochimica et biophysica acta 1999;1439(1):89-94.
-
1999: Wanders R J; Vreken P; den Boer M E; Wijburg F A; van Gennip A H; IJlst L
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Journal of inherited metabolic disease 1999;22(4):442-87.
-
1999: Houten S M; Kuis W; Duran M; de Koning T J; van Royen-Kerkhof A; Romeijn G J; Frenkel J; Dorland L; de Barse M M; Huijbers W A; Rijkers G T; Waterham H R; Wanders R J; Poll-The B T
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Nature genetics 1999;22(2):175-7.
-
1999: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Toyama R; Mukai S; Fujiki Y; Tsukamoto T; Osumi T; Orii T; Wanders R J; Kondo N
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: Biermann J; Gootjes J; Humbel B M; Dansen T B; Wanders R J; van den Bosch H
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders.
European journal of cell biology 1999;78(5):339-48.
-
1999: Ijlst L; Oostheim W; van Werkhoven M; Willemsen M A; Wanders R J
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: Wanders R J; Mooijer P A; Dekker C; Suzuki Y; Shimozawa N
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: Bootsma A H; Overmars H; van Rooij A; van Lint A E; Wanders R J; van Gennip A H; Vreken P
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: Vreken P; van Lint A E; Bootsma A H; Overmars H; Wanders R J; van Gennip A H
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: Andresen B S; Olpin S; Kvittingen E A; Augoustides-Savvopoulou P; Lindhout D; Halley D J; Vianey-Saban C; Wanders R J; Ijlst L; Schroeder L D; Bolund L; Gregersen N
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1999;22(3):281-5.
-
1999: Willemsen M A; Steijlen P M; de Jong J G; Rotteveel J J; IJlst L; van Werkhoven M A; Wanders R J
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: Möller G; Leenders F; van Grunsven E G; Dolez V; Qualmann B; Kessels M M; Markus M; Krazeisen A; Husen B; Wanders R J; de Launoit Y; Adamski J
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: Wanders R J
Peroxisomal disorders: clinical, biochemical, and molecular aspects.
Neurochemical research 1999;24(4):565-80.
-
1999: van Domburg P H; Willemsen M A; Rotteveel J J; de Jong J G; Thijssen H O; Heerschap A; Cruysberg J R; Wanders R J; Gabreëls F J; Steijlen P M
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
Neurology 1999;52(7):1345-52.
-
1999: Biermann J; Just W W; Wanders R J; Van Den Bosch H
Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes.
European journal of biochemistry / FEBS 1999;261(2):492-9.
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1999: Dansen T B; Westerman J; Wouters F S; Wanders R J; van Hoek A; Gadella T W; Wirtz K W
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: Ventura F V; Costa C G; Struys E A; Ruiter J; Allers P; Ijlst L; Tavares de Almeida I; Duran M; Jakobs C; Wanders R J
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: Matsuzono Y; Kinoshita N; Tamura S; Shimozawa N; Hamasaki M; Ghaedi K; Wanders R J; Suzuki Y; Kondo N; Fujiki Y
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: Andresen B S; Olpin S; Poorthuis B J; Scholte H R; Vianey-Saban C; Wanders R; Ijlst L; Morris A; Pourfarzam M; Bartlett K; Baumgartner E R; deKlerk J B; Schroeder L D; Corydon T J; Lund H; Winter V; Bross P; Bolund L; Gregersen N
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.
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1999: van Grunsven E G; van Berkel E; Mooijer P A; Watkins P A; Moser H W; Suzuki Y; Jiang L L; Hashimoto T; Hoefler G; Adamski J; Wanders R J
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
American journal of human genetics 1999;64(1):99-107.
-
1999: Jansen G A; Ferdinandusse S; Hogenhout E M; Verhoeven N M; Jakobs C; Wanders R J
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Advances in experimental medicine and biology 1999;466():371-6.
-
1999: van Grunsven E G; van Berkel E; Denis S; Mooijer P A; Wanders R J
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: IJx353L; Ruiter J P; Oostheim W; Niezen-Koning K E; Palmieri F; Wanders R J
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: Vreken P; van Lint A E; Bootsma A H; Overmars H; Wanders R J; van Gennip A H
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: Wanders R J
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: Vaz F M; van Gool S; Ofman R; IJlst L; Wanders R J
Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver.
Advances in experimental medicine and biology 1999;466():117-24.
-
1999: Zhang Z; Suzuki Y; Shimozawa N; Fukuda S; Imamura A; Tsukamoto T; Osumi T; Fujiki Y; Orii T; Wanders R J; Barth P G; Moser H W; Paton B C; Besley G T; Kondo N
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.
-
1998: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Kondo N; Kinoshita N; Fujiki Y; Tsukamoto T; Osumi T; Imanaka T; Orii T; Beemer F; Mooijer P; Dekker C; Wanders R J
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: Vreken P; van Rooij A; Denis S; van Grunsven E G; Cuebas D A; Wanders R J
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: Vaz F M; van Gool S; Ofman R; Ijlst L; Wanders R J
Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.
Biochemical and biophysical research communications 1998;250(2):506-10.
-
1998: Mandel H; Sharf R; Berant M; Wanders R J; Vreken P; Aviram M
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: Kinoshita N; Ghaedi K; Shimozawa N; Wanders R J; Matsuzono Y; Imanaka T; Okumoto K; Suzuki Y; Kondo N; Fujiki Y
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: Wirtz K W; Wouters F S; Bastiaens P H; Wanders R J; Seedorf U; Jovin T M
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: Ventura F V; Ruiter J P; IJlst L; de Almeida I T; Wanders R J
Lactic acidosis in long-chain fatty acid beta-oxidation disorders.
Journal of inherited metabolic disease 1998;21(6):645-54.
-
1998: Vreken P; van Lint A E; Bootsma A H; Overmars H; Wanders R J; van Gennip A H
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.
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1998: IJlst L; Mandel H; Oostheim W; Ruiter J P; Gutman A; Wanders R J
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
The Journal of clinical investigation 1998;102(3):527-31.
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1998: Waterham H R; Wijburg F A; Hennekam R C; Vreken P; Poll-The B T; Dorland L; Duran M; Jira P E; Smeitink J A; Wevers R A; Wanders R J
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: Wanders R J; Denis S; Ruiter J P; IJlst L; Dacremont G
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: Okumoto K; Shimozawa N; Kawai A; Tamura S; Tsukamoto T; Osumi T; Moser H; Wanders R J; Suzuki Y; Kondo N; Fujiki Y
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: Tang N L; Hui J; Law L K; To K F; Ruiter J P; IJlst L; Wanders R J; Ho C S; Fok T F; Yuen P M; Hjelm N M
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: Wanders R J; Romeijn G J
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.
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1998: Brites P; Motley A; Hogenhout E; Hettema E; Wijburg F; Heijmans H S; Tabak H F; Distel B; Wanders R J
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: Wanders R J; Denis S; van Berkel E; Wouters F; Wirtz K W; Seedorf U
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: Van Grunsven E G; van Berkel E; Lemonde H; Clayton P T; Wanders R J
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: Jansen G A; Ferdinandusse S; Skjeldal O H; Stokke O; de Groot C J; Jakobs C; Wanders R J
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: Wanders R J; Mooyer P W; Dekker C; Vreken P
X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.
Journal of inherited metabolic disease 1998;21(3):285-7.
-
1998: Barth P G; Wanders R J; Scholte H R; Abeling N; Jakobs C; Schutgens R B; Vreken P
L-2-hydroxyglutaric aciduria and lactic acidosis.
Journal of inherited metabolic disease 1998;21(3):251-4.
-
1998: Barth P G; Wanders R J; Ruitenbeek W; Roe C; Scholte H R; van der Harten H; van Moorsel J; Duran M; Dingemans K P
Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families.
Neuromuscular disorders : NMD 1998;8(5):296-304.
-
1998: Wanders R J; Romeijn G J
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: Ventura F V; Ijlst L; Ruiter J; Ofman R; Costa C G; Jakobs C; Duran M; Tavares de Almeida I; Bieber L L; Wanders R J
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: Ofman R; Hettema E H; Hogenhout E M; Caruso U; Muijsers A O; Wanders R J
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: Wanders R J; Tager J M
Lipid metabolism in peroxisomes in relation to human disease.
Molecular aspects of medicine 1998;19(2):69-154.
-
1998: de Vet E C; Ijlst L; Oostheim W; Wanders R J; van den Bosch H
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.
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1998: Seedorf U; Raabe M; Ellinghaus P; Kannenberg F; Fobker M; Engel T; Denis S; Wouters F; Wirtz K W; Wanders R J; Maeda N; Assmann G
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: Jansen G A; Mihalik S J; Watkins P A; Jakobs C; Moser H W; Wanders R J
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: van Grunsven E G; van Berkel E; Ijlst L; Vreken P; de Klerk J B; Adamski J; Lemonde H; Clayton P T; Cuebas D A; Wanders R J
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: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Tsukamoto T; Osumi T; Tateishi K; Okumoto K; Fujiki Y; Orii T; Barth P G; Wanders R J; Kondo N
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: van Roermund C W; Hettema E H; Kal A J; van den Berg M; Tabak H F; Wanders R J
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: Casale C H; Casals N; Pié J; Zapater N; Pérez-Cerdá C; Merinero B; Martínez-Pardo M; García-Peñas J J; García-Gonzalez J M; Lama R; Poll-The B T; Smeitink J A; Wanders R J; Ugarte M; Hegardt F G
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.
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1998: Van Kuilenburg A B; Van Lenthe H; Wanders R J; Van Gennip A H
Subcellular localization of dihydropyrimidine dehydrogenase.
Advances in experimental medicine and biology 1998;431():817-21.
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1997: Verleur N; Hettema E H; van Roermund C W; Tabak H F; Wanders R J
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.
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1997: Casals N; Pié J; Casale C H; Zapater N; Ribes A; Castro-Gago M; Rodriguez-Segade S; Wanders R J; Hegardt F G
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.
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1997: Jansen G A; Ofman R; Ferdinandusse S; Ijlst L; Muijsers A O; Skjeldal O H; Stokke O; Jakobs C; Besley G T; Wraith J E; Wanders R J
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nature genetics 1997;17(2):190-3.
-
1997: Van Kuilenburg A B; Van Lenthe H; Wanders R J; Van Gennip A H
Subcellular localization of dihydropyrimidine dehydrogenase.
Biological chemistry 1997;378(9):1047-53.
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1997: Wanders R J; Vilarinho L; Hartung H P; Hoffmann G F; Mooijer P A; Jansen G A; Huijmans J G; de Klerk J B; ten Brink H J; Jakobs C; Duran M
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: Jansen G A; Mihalik S J; Watkins P A; Moser H W; Jakobs C; Heijmans H S; Wanders R J
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: van Grunsven E G; Wanders R J
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: Wanders R J; Romeijn G J; Wijburg F; Hennekam R C; de Jong J; Wevers R A; Dacremont G
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: Ventura F V; Costa C G; IJlst L; Dorland L; Duran M; Jakobs C; de Almeida I T; Wanders R J
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: IJlst L; Oostheim W; Ruiter J P; Wanders R J
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: Silva M F; Ruiter J P; Illst L; Jakobs C; Duran M; de Almeida I T; Wanders R J
Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro.
Journal of inherited metabolic disease 1997;20(3):397-400.
-
1997: Wanders R J; Denis S; Wouters F; Wirtz K W; Seedorf U
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: van Geel B M; Assies J; Wanders R J; Barth P G
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
Journal of neurology, neurosurgery, and psychiatry 1997;63(1):4-14.
-
1997: Jansen G A; Wanders R J; Watkins P A; Mihalik S J
Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.
The New England journal of medicine 1997;337(2):133-4.
-
1997: van Grunsven E G; van Roermund C W; Denis S; Wanders R J
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: Geelen M J; Bijleveld C; Velasco G; Wanders R J; Guzmán M
Studies on the intracellular localization of acetyl-CoA carboxylase.
Biochemical and biophysical research communications 1997;233(1):253-7.
-
1997: Song X Q; Fukao T; Mitchell G A; Kassovska-Bratinova S; Ugarte M; Wanders R J; Hirayama K; Shintaku H; Churchill P; Watanabe H; Orii T; Kondo N
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: Motley A M; Hettema E H; Hogenhout E M; Brites P; ten Asbroek A L; Wijburg F A; Baas F; Heijmans H S; Tabak H F; Wanders R J; Distel B
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Nature genetics 1997;15(4):377-80.
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