A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
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.
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
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Journal Article
Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis
Vaz, Frédéric M., Fouchier, Sigrid W., Ofman, Rob, Sommer, Monica, Wanders, Ronald J.A.
Published in The Journal of biological chemistry (10.03.2000)
Published in The Journal of biological chemistry (10.03.2000)
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Journal Article
Regulation of sterol carrier protein gene expression by the Forkhead transcription factor FOXO3a
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.
Published in Journal of lipid research (01.01.2004)
Published in Journal of lipid research (01.01.2004)
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Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”
van Geel, B M, Assies, J, Haverkort, E B, Koelman, J H T M, Verbeeten, B, Wanders, R J A, Barth, P G
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.09.1999)
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.09.1999)
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Journal Article
Book Review
Case report: Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency
WB Geven, KE Niezen-Koning, A Timmer, AJ van Loon, RJA Wanders, FJ van Spronsen
Published in BJOG : an international journal of obstetrics and gynaecology (01.08.2007)
Published in BJOG : an international journal of obstetrics and gynaecology (01.08.2007)
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Journal Article
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
Barth, P. G., Wanders, R. J. A., Vreken, P., Janssen, E. A. M., Lam, J., Baas, F.
Published in Journal of inherited metabolic disease (01.06.1999)
Published in Journal of inherited metabolic disease (01.06.1999)
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Journal Article
Conference Proceeding
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
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
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article
Peroxisomal beta-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions
Roermund, C.W.T. van, Hettema, E.H, Kal, A.J, Berg, M. van den, Tabak, H.F, Wanders, R.J.A
Published in The EMBO journal (01.02.1998)
Published in The EMBO journal (01.02.1998)
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Journal Article
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress
Spiekerkoetter, U., Tokunaga, C., Wendel, U., Mayatepek, E., Exil, V., Duran, M., Wijburg, F. A., Wanders, R. J. A., Strauss, A. W.
Published in European journal of clinical investigation (01.03.2004)
Published in European journal of clinical investigation (01.03.2004)
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Journal Article
Peroxisomal D-hydroxyacyl-CoA Dehydrogenase Deficiency: Resolution of the Enzyme Defect and Its Molecular Basis in Bifunctional Protein Deficiency
Van Grunsven, Elisabeth G., Van Berkel, Emanuel, Ijlst, Lodewijk, Vreken, Peter, Johannis B. C. De Klerk, Adamski, Jerzy, Lemonde, Hugh, Clayton, Peter T., Cuebas, Dean A., Ronald J. A. Wanders
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.1998)
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Journal Article
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
MADSEN, Pia Pinholt, KIBAEK, Maria, WANDERS, Ronald J. A, RUITER, Jos P. N, GREGERSEN, Niels, ANDRESEN, Brage Storstein, ROCA, Xavier, SACHIDANANDAM, Ravi, KRAINER, Adrian R, CHRISTENSEN, Ernst, STEINER, Robert D, GIBSON, K. Michael, CORYDON, Thomas J, KNUDSEN, Inga
Published in Human genetics (01.02.2006)
Published in Human genetics (01.02.2006)
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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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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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