Rhabdomyolysis: Review of the literature
Zutt, R, van der Kooi, A.J, Linthorst, G.E, Wanders, R.J.A, de Visser, M
Published in Neuromuscular disorders : NMD (01.08.2014)
Published in Neuromuscular disorders : NMD (01.08.2014)
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Journal Article
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders
Djouadi, F., Aubey, F., Schlemmer, D., Ruiter, J.P.N., Wanders, R.J.A., Strauss, A.W., Bastin, Jean
Published in Human molecular genetics (15.09.2005)
Published in Human molecular genetics (15.09.2005)
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A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways
Gloerich, J., van Vlies, N., Jansen, G.A., Denis, S., Ruiter, J.P.N., van Werkhoven, M.A., Duran, M., Vaz, F.M., Wanders, R.J.A., Ferdinandusse, S.
Published in Journal of lipid research (01.04.2005)
Published in Journal of lipid research (01.04.2005)
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Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy
Gobin-Limballe, S., Djouadi, F., Aubey, F., Olpin, S., Andresen, B.S., Yamaguchi, S., Mandel, H., Fukao, T., Ruiter, J.P.N., Wanders, R.J.A., McAndrew, R., Kim, J.J., Bastin, J.
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Journal Article
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
Bams-Mengerink, A M, Majoie, C B L M, Duran, M, Wanders, R J A, Van Hove, J, Scheurer, C D, Barth, P G, Poll-The, B T
Published in Neurology (28.03.2006)
Published in Neurology (28.03.2006)
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Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy
Westermann, C.M, Dorland, L, Votion, D.M, de Sain-van der Velden, M.G.M, Wijnberg, I.D, Wanders, R.J.A, Spliet, W.G.M, Testerink, N, Berger, R, Ruiter, J.P.N, van der Kolk, J.H
Published in Neuromuscular disorders : NMD (01.05.2008)
Published in Neuromuscular disorders : NMD (01.05.2008)
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Identification of human PMP34 as a peroxisomal ATP transporter
Visser, W.F, van Roermund, C.W.T, Waterham, H.R, Wanders, R.J.A
Published in Biochemical and biophysical research communications (06.12.2002)
Published in Biochemical and biophysical research communications (06.12.2002)
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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
Bikker, H., Bakker, H.D., Abeling, N.G.G.M., Poll-The, B.T., Kleijer, W.J., Rosenblatt, D.S., Waterham, H.R., Wanders, R.J.A., Duran, M.
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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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
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
Linnebank, M, Kemp, S, Wanders, R J A, Kleijer, W J, van der Sterre, M L T, Gärtner, J, Fliessbach, K, Semmler, A, Sokolowski, P, Köhler, W, Schlegel, U, Schmidt, S, Klockgether, T, Wüllner, U
Published in Neurology (14.02.2006)
Published in Neurology (14.02.2006)
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Molecular basis of d-bifunctional protein deficiency
Möller, G, van Grunsven, E.G, Wanders, R.J.A, Adamski, J
Published in Molecular and cellular endocrinology (22.01.2001)
Published in Molecular and cellular endocrinology (22.01.2001)
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Functional Analysis of Mutant Human Carnitine Acylcarnitine Translocases in Yeast
IJlst, L., van Roermund, C.W.T., Iacobazzi, V., Oostheim, W., Ruiter, J.P.N., Williams, J.C., Palmieri, F., Wanders, R.J.A.
Published in Biochemical and biophysical research communications (26.01.2001)
Published in Biochemical and biophysical research communications (26.01.2001)
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Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities
de Vet, E C, Ijlst, L, Oostheim, W, Dekker, C, Moser, H W, van Den Bosch, H, Wanders, R J
Published in Journal of lipid research (01.11.1999)
Published in Journal of lipid research (01.11.1999)
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Peroxisomes, lipid metabolism and lipotoxicity
Wanders, R.J.A., Ferdinandusse, S., Brites, P., Kemp, S.
Published in Biochimica et biophysica acta (01.03.2010)
Published in Biochimica et biophysica acta (01.03.2010)
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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
van Kuilenburg, André B.P, Tarailo-Graovac, Maja, Richmond, Phillip A, Drögemöller, Britt I, Pouladi, Mahmoud A, Leen, René, Brand-Arzamendi, Koroboshka, Dobritzsch, Doreen, Dolzhenko, Egor, Eberle, Michael A, Hayward, Bruce, Jones, Meaghan J, Karbassi, Farhad, Kobor, Michael S, Koster, Janet, Kumari, Daman, Li, Meng, MacIsaac, Julia, McDonald, Cassandra, Meijer, Judith, Nguyen, Charlotte, Rajan-Babu, Indhu-Shree, Scherer, Stephen W, Sim, Bernice, Trost, Brett, Tseng, Laura A, Turkenburg, Marjolein, van Vugt, Joke J.F.A, Veldink, Jan H, Walia, Jagdeep S, Wang, Youdong, van Weeghel, Michel, Wright, Galen E.B, Xu, Xiaohong, Yuen, Ryan K.C, Zhang, Jinqiu, Ross, Colin J, Wasserman, Wyeth W, Geraghty, Michael T, Santra, Saikat, Wanders, Ronald J.A, Wen, Xiao-Yan, Waterham, Hans R, Usdin, Karen, van Karnebeek, Clara D.M
Published in The New England journal of medicine (11.04.2019)
Published in The New England journal of medicine (11.04.2019)
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Sensitive analysis of serum 3α, 7α, 12α,24-tetrahydroxy-5β-cholestan-26-oic acid diastereomers using gas chromatography–mass spectrometry and its application in peroxisomal d-bifunctional protein deficiency
Vreken, P., van Rooij, A., Denis, S., van Grunsven, E.G., Cuebas, D.A., Wanders, R.J.A.
Published in Journal of lipid research (01.12.1998)
Published in Journal of lipid research (01.12.1998)
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