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Lodewijk IJlst

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TOP 3
Sara Violante; Ronald J A Wanders; Lodewijk IJlst; Isabel Tavares de Almeida; Heleen te Brinke; Fátima V Ventura; Sander M Houten
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
Minke H de Ru; Carla E M Hollak; Lodewijk IJlst; Willem Kulik; Muhammad A Saif; Linda van der Tol; Willem M van der Wal; Henk Van Lenthe; Naomi van Vlies; Tom Wagemans; Ronald J Wanders; Brian W Bigger; Frits A Wijburg
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
J de Ruijter; Lodewijk IJlst; Willem Kulik; Henk Van Lenthe; Naomi van Vlies; T Wagemans; Frits A Wijburg
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

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2013: Sara Violante; Ronald J A Wanders; Lodewijk IJlst; Isabel Tavares de Almeida; Heleen te Brinke; Fátima V Ventura; Sander M Houten
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013;27(5):2039-44.
2013: Minke H de Ru; Carla E M Hollak; Lodewijk IJlst; Willem Kulik; Muhammad A Saif; Linda van der Tol; Willem M van der Wal; Henk Van Lenthe; Naomi van Vlies; Tom Wagemans; Ronald J Wanders; Brian W Bigger; Frits A Wijburg
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
Journal of inherited metabolic disease 2013;36(2):247-55.
2013: J de Ruijter; Lodewijk IJlst; Willem Kulik; Henk Van Lenthe; Naomi van Vlies; T Wagemans; Frits A Wijburg
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.
Journal of inherited metabolic disease 2013;36(2):271-9.
2013: Eugène F Diekman; Marinus Duran; Lodewijk IJlst; Berthil H C M T Prinsen; Carolien C A Boelen; Tom J de Koning; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg; Gepke Visser
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
JIMD reports 2013;7():1-6.
2012: Jessica de Ruijter; Lodewijk IJlst; Allan M Lund; Paul J Orchard; G Bradley Schaefer; Tom Wagemans; Frits A Wijburg; Minke H de Ru; Naomi van Vlies
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
Molecular genetics and metabolism 2012;107(4):705-10.
2012: Carlo W T van Roermund; Ronald J A Wanders; Hans R Waterham; Hendrik Folkerts; Lodewijk IJlst; Wiktor Majczak; Klaas J Hellingwerf
Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae.
The Journal of biological chemistry 2012;287(24):20144-53.
2012: Paula B M Luís; Jos P N Ruiter; Ronald J Wanders; Isabel Tavares de Almeida; Luísa Diogo; Marinus Duran; Paula Garcia; Lodewijk IJlst; Margarida F B Silva
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.
Journal of inherited metabolic disease 2012;35(3):443-9.
2012: Annet M Bosch; Lodewijk IJlst; Kevin Stroek; N G G M Abeling; Hans R Waterham; Ronald J A Wanders
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Orphanet journal of rare diseases 2012;7():83.
2012: Jessica de Ruijter; Lodewijk IJlst; Wim Kulik; Magdalena Narajczyk; Marlies J Valstar; Willem M van der Wal; Tom Wagemans; Grzegorz Wegrzyn; Frits A Wijburg
Genistein in Sanfilippo disease: a randomized controlled crossover trial.
Annals of neurology 2012;71(1):110-20.
2011: Paula B M Luís; Marco Moedas; Rob Ofman; Jos P Ruiter; Isabel Tavares de Almeida; Luísa Diogo; Marinus Duran; Paula Garcia; Lodewijk IJlst; Ronald J Wanders; Margarida F B Silva
Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.
Biochemical pharmacology 2011;82(11):1740-6.
2011: Cátia C P Aires; Isabel Tavares de Almeida; Marinus Duran; Lodewijk IJlst; Arno van Cruchten; Ronald J A Wanders; Margarida F B Silva
New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA.
Journal of hepatology 2011;55(2):426-34.
2011: Paula B M Luís; Al-Walid Mohsen; Jos P N Ruiter; Marinus Duran; Lodewijk IJlst; Isabel Tavares de Almeida; Jerry Vockley; Ronald J A Wanders; Margarida F B Silva
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.
Drug metabolism and disposition: the biological fate of chemicals 2011;39(7):1155-60.
2011: Carlo W T van Roermund; Wouter F Visser; Lodewijk IJlst; Hans R Waterham; Ronald J A Wanders
Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.
Biochimica et biophysica acta 2011;1811(3):148-52.
2011: Annet M Bosch; N G G M Abeling; Lodewijk IJlst; Hennie Knoester; W-Ludo van der Pol; Alida E M Stroomer; Ronald J Wanders; Gepke Visser; Frits A Wijburg; Marinus Duran; Hans R Waterham
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
Journal of inherited metabolic disease 2011;34(1):159-64.
2010: Ronald J A Wanders; Jos P N Ruiter; Lodewijk IJlst; Hans R Waterham; Sander M Houten
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
Journal of inherited metabolic disease 2010;33(5):479-94.
2010: Sara Violante; Lodewijk IJlst; Henk van Lenthe; Isabel Tavares de Almeida; Ronald J Wanders; Fátima V Ventura
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
Biochimica et biophysica acta 2010;1802(9):728-32.
2010: Cátia C P Aires; Lodewijk IJlst; Femke Stet; Carina Prip-Buus; Isabel Tavares de Almeida; Marinus Duran; Ronald J A Wanders; Margarida F B Silva
Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis.
Biochemical pharmacology 2010;79(5):792-9.
2008: Carlo W T van Roermund; Wouter Visser; Lodewijk IJlst; Arno van Cruchten; Maxim Boek; Wim Kulik; Hans R Waterham; Ronald J A Wanders
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(12):4201-8.
2008: Margarida F B Silva; R J A Wanders; C C P Aires; Marinus Duran; Lodewijk IJlst; P B M Luis; Jos P N Ruiter; Isabel Tavares de Almeida
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review.
Journal of inherited metabolic disease 2008;31(2):205-16.
2008: Malika Chegary; Heleen te Brinke; Mirjam Doolaard; Lodewijk IJlst; Frits A Wijburg; Ronald J A Wanders; Sander M Houten
Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
Molecular genetics and metabolism 2008;93(4):403-10.
2007: Sacha Ferdinandusse; Simone Denis; Eveline M Hogenhout; Jan Koster; Carlo W T van Roermund; Lodewijk IJlst; Ann B Moser; Ronald J A Wanders; Hans R Waterham
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Human mutation 2007;28(9):904-12.
2007: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Hans R Waterham; Ronald J A Wanders
Demonstration of bile acid transport across the mammalian peroxisomal membrane.
Biochemical and biophysical research communications 2007;357(2):335-40.
2007: Cátia C P Aires; Jos P N Ruiter; Paula B M Luís; Herman J Ten Brink; Lodewijk IJlst; Isabel Tavares de Almeida; Marinus Duran; Ronald J A Wanders; Margarida F B Silva
Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acids.
Biochimica et biophysica acta 2007;1771(4):533-43.
2007: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Hans R Waterham; Ronald J A Wanders
Metabolite transport across the peroxisomal membrane.
The Biochemical journal 2007;401(2):365-75.
2007: Ference J Loupatty; Peter T Clayton; Jos P N Ruiter; Rob Ofman; Lodewijk IJlst; Garry K Brown; David R Thorburn; Robert Harris; Marinus Duran; Carlos Desousa; Steve Krywawych; Simon J R Heales; Ronald J A Wanders
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
American journal of human genetics 2007;80(1):195-9.
2006: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Klaas J Hellingwerf; Hans R Waterham; Ronald J A Wanders
First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization.
Biochemical and biophysical research communications 2006;348(4):1224-31.
2006: Jolein Gloerich; Lodewijk IJlst; R J A Wanders; Sacha Ferdinandusse
Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome.
Molecular genetics and metabolism 2006;89(1-2):111-5.
2006: Bianca T van Maldegem; Marinus Duran; Ronald J A Wanders; Klary E Niezen-Koning; Marije Hogeveen; Lodewijk IJlst; Hans R Waterham; Frits A Wijburg
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
JAMA : the journal of the American Medical Association 2006;296(8):943-52.
2006: Nadia A Oey; Jos P N Ruiter; Lodewijk IJlst; T Attie-Bitach; Michel Vekemans; R J A Wanders; Frits A Wijburg
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.
Biochemical and biophysical research communications 2006;346(1):33-7.
2006: Ference J Loupatty; Annemarie van der Steen; Lodewijk IJlst; Jos P N Ruiter; Rob Ofman; Matthias R Baumgartner; Diana Ballhausen; Seiji Yamaguchi; Marinus Duran; Ronald J A Wanders
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Molecular genetics and metabolism 2006;87(3):243-8.
2006: Nadia A Oey; Jos P N Ruiter; Tania Attié-Bitach; Lodewijk IJlst; Ronald J A Wanders; Frits A Wijburg
Fatty acid oxidation in the human fetus: implications for fetal and adult disease.
Journal of inherited metabolic disease 2006;29(1):71-5.
2005: András N Spaan; Lodewijk IJlst; Carlo W T van Roermund; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism 2005;86(4):441-7.
2005: Fátima V Ventura; Jos P N Ruiter; Lodewijk IJlst; Isabel Tavares de Almeida; R J A Wanders
Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects.
Molecular genetics and metabolism 2005;86(3):344-52.
2005: Wouter Visser; Carlo W T van Roermund; Lodewijk IJlst; Klaas J Hellingwerf; Ronald J A Wanders; Hans R Waterham
Demonstration and characterization of phosphate transport in mammalian peroxisomes.
The Biochemical journal 2005;389(Pt 3):717-22.
2005: Nadia A Oey; Lodewijk IJlst; Carlo W T van Roermund; Frits A Wijburg; Ronald J A Wanders
dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.
Molecular genetics and metabolism 2005;85(2):121-4.
2005: Ute Spiekerkoetter; Chonan Tokunaga; Udo Wendel; Ertan Mayatepek; Lodewijk IJlst; Frédéric M Vaz; Naomi van Vlies; Henk Overmars; Marinus Duran; Frits A Wijburg; Ronald J Wanders; Arnold W Strauss
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
Pediatric research 2005;57(6):760-4.
2005: Annet M Bosch; Lodewijk IJlst; Wendy Oostheim; Joyce Mulders; Henk D Bakker; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham
Identification of novel mutations in classical galactosemia.
Human mutation 2005;25(5):502.
2005: M C Hunt; Jos P N Ruiter; Petra A W Mooyer; C W T van Roermond; Rob Ofman; Lodewijk IJlst; R J A Wanders
Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts.
European journal of clinical investigation 2005;35(1):38-46.
2004: Margarida F B Silva; Lodewijk IJlst; Paul Allers; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria.
Drug metabolism and disposition: the biological fate of chemicals 2004;32(11):1304-10.
2004: Carlo W T van Roermund; Mark de Jong; Lodewijk IJlst; Jan van Marle; Tobias B Dansen; Ronald J A Wanders; Hans R Waterham
The peroxisomal lumen in Saccharomyces cerevisiae is alkaline.
Journal of cell science 2004;117(Pt 18):4231-7.
2004: Ference J Loupatty; Jos P N Ruiter; Lodewijk IJlst; Marinus Duran; Ronald J A Wanders
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
Clinical chemistry 2004;50(8):1447-50.
2003: Carlo W T van Roermund; Hans R Waterham; Lodewijk IJlst; R J A Wanders
Fatty acid metabolism in Saccharomyces cerevisiae.
Cellular and molecular life sciences : CMLS 2003;60(9):1838-51.
2003: AI al Aqeel; M S Rashid; Jos P N Ruiter; Lodewijk IJlst; R Ja Wanders
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
Clinical genetics 2003;64(2):163-5.
2002: Lodewijk IJlst; Ference J Loupatty; Jos P N Ruiter; Marinus Duran; Willy Lehnert; Ronald J A Wanders
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
American journal of human genetics 2002;71(6):1463-6.
2002: Sacha Ferdinandusse; Elisabeth G van Grunsven; Wendy Oostheim; Simone Denis; Eveline M Hogenhout; Lodewijk IJlst; Carlo W T van Roermund; Hans R Waterham; S Goldfischer; R J A Wanders
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
American journal of human genetics 2002;70(6):1589-93.
2002: Margarethe E J den Boer; Ronald J A Wanders; Andrew A M Morris; Lodewijk IJlst; Hugo S A Heymans; Frits A Wijburg
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
Pediatrics 2002;109(1):99-104.
2001: Margarida F B Silva; Jos P N Ruiter; Lodewijk IJlst; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acids.
Chemico-biological interactions 2001;137(3):203-12.
2001: Michèl A A P Willemsen; Lodewijk IJlst; PM Steijlen; Jan J Rotteveel; Jan G N de Jong; Peter H M F Van Domburg; Ertan Mayatepek; Fons J M Gabreëls; Ronald J A Wanders
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Brain : a journal of neurology 2001;124(Pt 7):1426-37.
2001: Carlo W T van Roermund; R Drissen; Marlene van den Berg; Lodewijk IJlst; Ewald H Hettema; Henk F Tabak; Hans R Waterham; Ronald J A Wanders
Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae.
Molecular and cellular biology 2001;21(13):4321-9.
2001: Margarida F B Silva; Jos P N Ruiter; Lodewijk IJlst; Paul Allers; Herman J Ten Brink; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.
Analytical biochemistry 2001;290(1):60-7.
2001: Lodewijk IJlst; Carlo W T van Roermund; Vito Iacobazzi; Wendy Oostheim; Jos P N Ruiter; J C Williams; Ferdinando Palmieri; Ronald J A Wanders
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.
Biochemical and biophysical research communications 2001;280(3):700-6.
2001: Michèl A A P Willemsen; Jan J Rotteveel; Jan G N de Jong; Ronald J A Wanders; Lodewijk IJlst; Georg F Hoffmann; Ertan Mayatepek
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
Journal of the neurological sciences 2001;183(1):61-7.
2000: Sacha Ferdinandusse; Simone Denis; Lodewijk IJlst; Georges Dacremont; Hans R Waterham; Ronald J A Wanders
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.
Journal of lipid research 2000;41(11):1890-6.
2000: Margarethe E J den Boer; Lodewijk IJlst; Frits A Wijburg; Wendy Oostheim; MA van Werkhoven; Marielle van Pampus; Hugo S A Heymans; Ronald J A Wanders
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
Pediatric research 2000;48(2):151-4.
2000: Wulf Röschinger; Ania C Muntau; Marinus Duran; L Dorland; Lodewijk IJlst; Ronald J A Wanders; Adelbert A Roscher
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.
Clinica chimica acta; international journal of clinical chemistry 2000;298(1-2):55-68.
2000: Lodewijk IJlst; I de Kromme; Wendy Oostheim; Ronald J A Wanders
Molecular cloning and expression of human L-pipecolate oxidase.
Biochemical and biophysical research communications 2000;270(3):1101-5.
2000: H Watanabe; KE Orii; Toshiyuki Fukao; XQ Song; Toshifumi Aoyama; Lodewijk IJlst; J Ruiter; Ronald J A Wanders; Naomi Kondo
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
Human mutation 2000;15(5):430-8.
1999: EC de Vet; Lodewijk IJlst; Wendy Oostheim; C Dekker; H W Moser; H van den Bosch; Ronald J A Wanders
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
Journal of lipid research 1999;40(11):1998-2003.
1999: Sacha Ferdinandusse; J Mulders; Lodewijk IJlst; Simone Denis; Georges Dacremont; Hans R Waterham; Ronald J A Wanders
Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.
Biochemical and biophysical research communications 1999;263(1):213-8.
1999: Ronald J A Wanders; Peter Vreken; Margarethe E J den Boer; Frits A Wijburg; Albert H van Gennip; Lodewijk IJlst
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Journal of inherited metabolic disease 1999;22(4):442-87.
1999: Lodewijk IJlst; Wendy Oostheim; MA van Werkhoven; Michèl A A P Willemsen; Ronald J A Wanders
Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.
Journal of inherited metabolic disease 1999;22(3):319-21.
1999: Brage S Andresen; Simon E Olpin; E A Kvittingen; Persefoni Augoustides-Savvopoulou; Dick Lindhout; D J Halley; Christine Vianey-Saban; Ronald J A Wanders; Lodewijk IJlst; Lisbeth Dahl Schroeder; Lars Bolund; Niels Gregersen
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1999;22(3):281-5.
1999: Michèl A A P Willemsen; PM Steijlen; Jan G N de Jong; Jan J Rotteveel; Lodewijk IJlst; MA van Werkhoven; Ronald J A Wanders
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome.
The Journal of investigative dermatology 1999;112(5):827-8.
1999: Fátima V Ventura; CG Costa; Eduard A Struys; Jos P N Ruiter; Paul Allers; Lodewijk IJlst; Isabel Tavares de Almeida; Marinus Duran; Cornelis Jakobs; Ronald J A Wanders
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.
Clinica chimica acta; international journal of clinical chemistry 1999;281(1-2):1-17.
1999: Brage S Andresen; Simon E Olpin; B J H M Poorthuis; Hans R Scholte; Christine Vianey-Saban; Ronald J A Wanders; Lodewijk IJlst; A Morris; Morteza Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; Lisbeth Dahl Schroeder; Thomas J Corydon; H Lund; Vibeke Winter; Peter Bross; Lars Bolund; Niels Gregersen
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
American journal of human genetics 1999;64(2):479-94.
1999: Frédéric M Vaz; S van Gool; Rob Ofman; Lodewijk IJlst; Ronald J A Wanders
Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver.
Advances in experimental medicine and biology 1999;466():117-24.
1998: Frédéric M Vaz; S van Gool; Rob Ofman; Lodewijk IJlst; Ronald J A Wanders
Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.
Biochemical and biophysical research communications 1998;250(2):506-10.
1998: Fátima V Ventura; Jos P N Ruiter; Lodewijk IJlst; Isabel Tavares de Almeida; Ronald J A Wanders
Lactic acidosis in long-chain fatty acid beta-oxidation disorders.
Journal of inherited metabolic disease 1998;21(6):645-54.
1998: Lodewijk IJlst; Hanna Mandel; Wendy Oostheim; Jos P N Ruiter; A Gutman; Ronald J A Wanders
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
The Journal of clinical investigation 1998;102(3):527-31.
1998: Ronald J A Wanders; Simone Denis; Jos P N Ruiter; Lodewijk IJlst; Georges Dacremont
2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation.
Biochimica et biophysica acta 1998;1393(1):35-40.
1998: Nelson Tang; Joannie Hui; L K Law; Ka-Fai To; J P Ruiter; Lodewijk IJlst; Ronald J A Wanders; Chung-Shun Ho; Tai Fai Fok; PM Yuen; N M Hjelm
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.
Journal of inherited metabolic disease 1998;21(4):423-5.
1998: Marjan Huizing; Udo Wendel; Wim Ruitenbeek; Vito Iacobazzi; Lodewijk IJlst; P Veenhuizen; P Savelkoul; Lambert P van den Heuvel; Jan A M Smeitink; R J Wanders; J M F Trijbels; Ferdinando Palmieri
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
Journal of inherited metabolic disease 1998;21(3):262-7.
1998: Fátima V Ventura; Lodewijk IJlst; Jos P N Ruiter; Rob Ofman; CG Costa; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; L L Bieber; Ronald J A Wanders
Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria.
European journal of biochemistry / FEBS 1998;253(3):614-8.
1998: EC de Vet; Lodewijk IJlst; Wendy Oostheim; Ronald J A Wanders; H van den Bosch
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.
The Journal of biological chemistry 1998;273(17):10296-301.
1998: Elisabeth G van Grunsven; E van Berkel; Lodewijk IJlst; Peter Vreken; J B de Klerk; Jerzy Adamski; Hugh Lemonde; P T Clayton; Dean Cuebas; Ronald J A Wanders
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(5):2128-33.
1997: Marjan Huizing; Vito Iacobazzi; Lodewijk IJlst; P Savelkoul; Wim Ruitenbeek; Lambert van Den Heuvel; Cesare Indiveri; jan smeitink; Frans J M Trijbels; R Wanders; Ferdinando Palmieri
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
American journal of human genetics 1997;61(6):1239-45.
1997: Klary E Niezen-Koning; R J Wanders; Jos P N Ruiter; Lodewijk IJlst; Gepke Visser; W C Reitsma-Bierens; Hugo S A Heymans; Dirk-Jan Reijngoud; G Peter A Smit
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
European journal of pediatrics 1997;156(11):870-3.
1997: Gerbert Jansen; Rob Ofman; Sacha Ferdinandusse; Lodewijk IJlst; Anton O Muijsers; OH Skjeldal; OH Stokke; Cornelis Jakobs; G T N Besley; James Wraith; Ronald J A Wanders
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nature genetics 1997;17(2):190-3.
1997: Fátima V Ventura; CG Costa; Lodewijk IJlst; L Dorland; Marinus Duran; Cornelis Jakobs; Isabel Tavares de Almeida; Ronald J A Wanders
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.
Journal of inherited metabolic disease 1997;20(3):423-6.
1997: Lodewijk IJlst; Wendy Oostheim; Jos P N Ruiter; Ronald J A Wanders
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
Journal of inherited metabolic disease 1997;20(3):420-2.
1996: Lodewijk IJlst; Jos P N Ruiter; Jan M N Hoovers; M E Jakobs; R J Wanders
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
The Journal of clinical investigation 1996;98(4):1028-33.
1996: Lodewijk IJlst; Jos P N Ruiter; J Vreijling; R J Wanders
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).
Journal of inherited metabolic disease 1996;19(2):165-8.
1996: Fátima V Ventura; Jos P N Ruiter; Lodewijk IJlst; Isabel Tavares de Almeida; R J Wanders
Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid beta-oxidation intermediates on mitochondrial oxidative phosphorylation.
Journal of inherited metabolic disease 1996;19(2):161-4.
1995: Fátima V Ventura; Jos P N Ruiter; Lodewijk IJlst; I T Almeida; R J Wanders
Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.
Biochimica et biophysica acta 1995;1272(1):14-20.
1995: Lodewijk IJlst; S Uskikubo; T Kamijo; T Hashimoto; Jos P N Ruiter; J B C de Klerk; R J Wanders
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
Journal of inherited metabolic disease 1995;18(2):241-4.
1995: Klary E Niezen-Koning; Francjan J van Spronsen; Lodewijk IJlst; R J Wanders; Michèle Brivet; Marinus Duran; Dirk-Jan Reijngoud; Hugo S A Heymans; G Peter A Smit
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.
Journal of inherited metabolic disease 1995;18(2):230-2.
1993: Lodewijk IJlst; R J Wanders
A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.
Annals of clinical biochemistry 1993;30 ( Pt 3)():293-7.
1993: Lodewijk IJlst; R J Wanders
A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosis.
Journal of inherited metabolic disease 1993;16(3):568-70.
1992: R J Wanders; Lodewijk IJlst; F Poggi; Jean-Paul Bonnefont; A Munnich; Michèle Brivet; Daniel Rabier; Jean-Marie Saudubray
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
Biochemical and biophysical research communications 1992;188(3):1139-45.
1992: Klary E Niezen-Koning; R J Wanders; G T Nagel; Lodewijk IJlst; Hugo S A Heymans
A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS.
Biochimica et biophysica acta 1992;1180(1):28-32.
1992: R J Wanders; Carlo W T van Roermund; Simone Denis; R B Schutgens; Lodewijk IJlst; J M Tager
Molecular analysis of disorders of peroxisomal beta-oxidation.
Progress in clinical and biological research 1992;375():507-19.
1992: R J Wanders; Lodewijk IJlst
Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis.
Journal of inherited metabolic disease 1992;15(3):356-8.
1991: Marinus Duran; R J Wanders; J P de Jager; L Dorland; L Bruinvis; D Ketting; Lodewijk IJlst; F J van Sprang
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.
European journal of pediatrics 1991;150(3):190-5.
1991: H Przyrembel; C Jakobs; Lodewijk IJlst; J B C de Klerk; R J Wanders
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1991;14(5):674-80.
1991: R J Wanders; Lodewijk IJlst; Marinus Duran; C Jakobs; J B C de Klerk; H Przyrembel; F Rocchiccioli; P Aubourg
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.
Journal of inherited metabolic disease 1991;14(3):325-8.
1991: R J Wanders; Lodewijk IJlst; E van Elk; J B C de Klerk; H Przyrembel
Octanoate and palmitate beta-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid beta-oxidation disorders.
Journal of inherited metabolic disease 1991;14(3):317-20.
1990: F Rocchiccioli; R J Wanders; Patrick Aubourg; C Vianey-Liaud; Lodewijk IJlst; M Fabre; Nathalie Cartier; P F Bougneres
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Pediatric research 1990;28(6):657-62.
1990: R J Wanders; Lodewijk IJlst; Albert H van Gennip; C Jakobs; J P de Jager; L Dorland; F J van Sprang; Marinus Duran
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.
Journal of inherited metabolic disease 1990;13(3):311-4.
1989: R J Wanders; Marinus Duran; Lodewijk IJlst; J P de Jager; Albert H van Gennip; C Jakobs; L Dorland; F J van Sprang
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase.
Lancet 1989;2(8653):52-3.