Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel
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
Published in American journal of nephrology (01.05.2005)
Published in American journal of nephrology (01.05.2005)
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Journal Article
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
van Geel, Björn M, Assies, Johanna, Wanders, Ronald J A, Barth, Peter G
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.07.1997)
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.07.1997)
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Journal Article
Conference Proceeding
Book Review
Plasmalogen Phospholipids Are Involved in HDL-Mediated Cholesterol Efflux: Insights from Investigations with Plasmalogen-Deficient Cells
Mandel, Hanna, Sharf, Rakefet, Berant, Moshe, Wanders, Ronald J.A., Vreken, Peter, Aviram, Michael
Published in Biochemical and biophysical research communications (18.09.1998)
Published in Biochemical and biophysical research communications (18.09.1998)
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Journal Article
High tolerance for oral galactose in classical galactosaemia: dietary implications
Bosch, A M, Bakker, H D, de B Wenniger-Prick, L J M, Wanders, R J A, Wijburg, F A
Published in Archives of disease in childhood (01.11.2004)
Published in Archives of disease in childhood (01.11.2004)
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Journal Article
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder
Gootjes, J, Skovby, F, Christensen, E, Wanders, R J A, Ferdinandusse, S
Published in Neurology (08.06.2004)
Published in Neurology (08.06.2004)
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Journal Article
Acyl-CoA: Dihydroxyacetonephosphate Acyltransferase: Cloning of the Human cDNA and Resolution of the Molecular Basis in Rhizomelic Chondrodysplasia Punctata Type 2
Ofman, Rob, Hettema, Ewald H., Hogenhout, Eveline M., Caruso, Ubaldo, Muijsers, Anton O., Wanders, Ronald J.A.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Journal Article
Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene
Jira, P. E., Waterham, H. R., Wanders, R. J. A., Smeitink, J. A. M., Sengers, R. C. A., Wevers, R. A.
Published in Annals of human genetics (01.05.2003)
Published in Annals of human genetics (01.05.2003)
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Journal Article
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
Andresen, Brage Storstein, Christensen, Ernst, Corydon, Thomas J., Bross, Peter, Pilgaard, Bente, Wanders, Ronald J.A., Ruiter, Jos P.N., Simonsen, Henrik, Winter, Vibeke, Knudsen, Inga, Schroeder, Lisbeth Dahl, Gregersen, Niels, Skovby, Flemming
Published in American journal of human genetics (01.11.2000)
Published in American journal of human genetics (01.11.2000)
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Journal Article
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
IJlst, L, Mandel, H, Oostheim, W, Ruiter, J P, Gutman, A, Wanders, R J
Published in The Journal of clinical investigation (01.08.1998)
Published in The Journal of clinical investigation (01.08.1998)
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Journal Article
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
Okumoto, Kanji, Shimozawa, Nobuyuki, Kawai, Atsusi, Tamura, Shigehiko, Tsukamoto, Toshiro, Osumi, Takashi, Moser, Hugo, Wanders, Ronald J. A., Suzuki, Yasuyuki, Kondo, Naomi, Fujiki, Yukio
Published in Molecular and Cellular Biology (01.07.1998)
Published in Molecular and Cellular Biology (01.07.1998)
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Journal Article
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
Vreken, P., Lint, A. E. M., Bootsma, A. H., Overmars, H., Wanders, R. J. A., Gennip, A. H.
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
Mechanisms of valproic acid toxicity: Studies on acyl-CoA interference with the urea cycle
Aires, Cátia C.P., van Cruchten, Arno, Ruiter, Jos, IJlst, Lodewijk, de Almeida, Isabel Tavares, Duran, Marinus, Wanders, Ronald J.A., Silva, Margarida F.B.
Published in Toxicology letters (05.10.2008)
Published in Toxicology letters (05.10.2008)
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Journal Article
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders
Ferdinandusse, S, Rusch, H, van Lint, A E M, Dacremont, G, Wanders, R J A, Vreken, P
Published in Journal of lipid research (01.03.2002)
Published in Journal of lipid research (01.03.2002)
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Journal Article
Molecular Cloning and Expression of Human Carnitine Octanoyltransferase: Evidence for Its Role in the Peroxisomal β-Oxidation of Branched-Chain Fatty Acids
Ferdinandusse, Sacha, Mulders, Joyce, IJlst, Lodewijk, Denis, Simone, Dacremont, Georges, Waterham, Hans R., Wanders, Ronald J.A.
Published in Biochemical and biophysical research communications (16.09.1999)
Published in Biochemical and biophysical research communications (16.09.1999)
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Journal Article
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
Hogenboom, Sietske, Romeijn, Gerrit Jan, Houten, Sander M, Baes, Myriam, Wanders, Ronald J A, Waterham, Hans R
Published in Journal of lipid research (01.01.2002)
Published in Journal of lipid research (01.01.2002)
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