Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Ronald Wanders

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Anatomy

Chemicals & Drugs

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
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.
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.
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.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Ronald Wanders (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
2006: Wanders Ronald J A; Waterham Hans R
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
Biochimica et biophysica acta 2006;1763(12):1707-20.
2006: Jansen Gerbert A; Wanders Ronald J A
Alpha-oxidation.
Biochimica et biophysica acta 2006;1763(12):1403-12.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
2006: Wanders Ronald J A; Waterham Hans R
Biochemistry of mammalian peroxisomes revisited.
Annual review of biochemistry 2006;75():295-332.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Ronald Wanders

Research Profile (preview)

Disorders

Anatomy

Chemicals & Drugs

Physiology

Phenomena

Concepts & Ideas

Living Beings

Genes & Molecular Sequences

Procedures

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Ronald Wanders (preview)

All Publications