Spontaneous pregnancy in a patient with classical galactosaemia
Jongh, S., Vreken, P., IJlst, L., Wanders, R. J. A., Jakobs, C., Bakker, H. D.
Published in Journal of inherited metabolic disease (01.08.1999)
Published in Journal of inherited metabolic disease (01.08.1999)
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Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis
Odievre, M-H, Sevin, C, Laurent, J, Laboureau, J-P, Rabier, D, Brivet, M, Roe, C, Wanders, RJA, Saudubray, J-M
Published in Acta Paediatrica (01.06.2002)
Published in Acta Paediatrica (01.06.2002)
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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 β-oxidation disorders
WANDERS, R. J. A, DENIS, S, VAN BERKEL, E, WOUTERS, F, WIRTZ, K. W. A, SEEDORF, U
Published in Journal of inherited metabolic disease (01.06.1998)
Published in Journal of inherited metabolic disease (01.06.1998)
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Journal Article
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
Wanders, R J, Duran, M, Ijlst, L, de Jager, J P, van Gennip, A H, Jakobs, C, Dorland, L, van Sprang, F J
Published in The Lancet (British edition) (01.07.1989)
Published in The Lancet (British edition) (01.07.1989)
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Journal Article
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency
Dionisi-Vici, C, Ruitenbeek, W, Fariello, G, Bentlage, H, Wanders, R J, Schägger, H, Bosman, C, Piantadosi, C, Sabetta, G, Bertini, E
Published in Annals of neurology (01.10.1997)
Published in Annals of neurology (01.10.1997)
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Journal Article
Carnitine‐acylcarnitine translocase deficiency is a treatable disease
Al Aqeel, A. I., Rashed, M. S., Wanders, R. J. A.
Published in Journal of inherited metabolic disease (01.05.1999)
Published in Journal of inherited metabolic disease (01.05.1999)
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Journal Article
Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
Wanders, R.J.A., van Roermund, C.W.T., van Wijland, M.J.A., Schutgens, R.B.H., van den Bosch, H., Schram, A.W., Tager, J.M.
Published in Biochemical and biophysical research communications (16.06.1988)
Published in Biochemical and biophysical research communications (16.06.1988)
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Journal Article
Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient
Huizing, M., Wendel, U., Ruitenbeek, W., Iacobazzi, V., Ijlst, L., Veenhuizen, P., Savelkoul, P., Heuvel, L. P., Smeitink, J. A. M., Wanders, R. J. A., Trijbels, J. M. F., Palmieri, F.
Published in Journal of inherited metabolic disease (01.06.1998)
Published in Journal of inherited metabolic disease (01.06.1998)
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Journal Article
Valproate inhibits the mitochondrial pyruvate‐driven oxidative phosphorylation in vitro
Silva, M. F. B., Ruiter, J. P. N., IJlst, L., Jakobs, C., Duran, M., Almeida, I. Tavares, Wanders, R. J. A.
Published in Journal of inherited metabolic disease (01.07.1997)
Published in Journal of inherited metabolic disease (01.07.1997)
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Journal Article
Conference Proceeding
Immunological analyses of alkyl-dihydroxyacetonephosphate synthase in human peroxisomal disorders
Biermann, Jan, Gootjes, Jeannette, Humbel, Bruno M., Dansen, Tobias B., Wanders, Ronald J.A., Van Den Bosch, Henk
Published in European journal of cell biology (01.05.1999)
Published in European journal of cell biology (01.05.1999)
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Journal Article
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders
Jansen, Gerbert A., Mihalik, Stephanie J., Watkins, Paul A., Jakobs, Cornelis, Moser, Hugo W., Wanders, Ronald J.A.
Published in Clinica chimica acta (23.03.1998)
Published in Clinica chimica acta (23.03.1998)
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Journal Article
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
Poll‐The, B. T., Frenkel, J., Houten, S. M., Kuis, W., Duran, M., Koning, T. J., Dorland, L., Barse, M. M. J., Romeijn, G. J., Wanders, R. J. A., Waterham, H. R.
Published in Journal of inherited metabolic disease (01.06.2000)
Published in Journal of inherited metabolic disease (01.06.2000)
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Journal Article
Complications in Early Diagnosis and Treatment of Two Infants With Long-Chain Fatty Acid β-Oxidation Defects
Skladal, Daniela, Sass, Jörn Oliver, Geiger, Harald, Geiger, Ralf, Mann, Christian, Vreken, Peter, Wanders, Ronald J. A, Trawöger, Rudolf
Published in Journal of pediatric gastroenterology and nutrition (01.10.2000)
Published in Journal of pediatric gastroenterology and nutrition (01.10.2000)
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Journal Article
First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome
Christiaens, G.C.M.L., de Pater, J.M., Stoutenbeek, Ph, Drogtrop, A., Wanders, R.J.A., Beemer, F.A.
Published in Prenatal diagnosis (01.06.2000)
Published in Prenatal diagnosis (01.06.2000)
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Journal Article
Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders
SCHMIDT-SOMMERFELD, E, BOBROWSKI, P. J, PENN, D, RHEAD, W. J, WANDERS, R. J. A, BENNETT, M. J
Published in Pediatric research (01.08.1998)
Published in Pediatric research (01.08.1998)
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Journal Article
Sjögren-Larsson syndrome
Willemsen, M A, de Jong, J G, van Domburg, P H, Rotteveel, J J, Wanders, R J, Mayatepek, E
Published in The Journal of pediatrics (01.02.2000)
Published in The Journal of pediatrics (01.02.2000)
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