The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)
El Hajj, H. I, Vluggens, A, Andreoletti, P, Ragot, K, Mandard, S, Kersten, S, Waterham, H. R, Lizard, G, Wanders, R. J. A, Reddy, J. K, Cherkaoui-Malki, Mustapha
Published in Endocrinology (Philadelphia) (01.06.2012)
Published in Endocrinology (Philadelphia) (01.06.2012)
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Journal Article
MRI as diagnostic tool in early-onset peroxisomal disorders
van der Knaap, M S, Wassmer, E, Wolf, N I, Ferreira, P, Topçu, M, Wanders, R J A, Waterham, H R, Ferdinandusse, S
Published in Neurology (24.04.2012)
Published in Neurology (24.04.2012)
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Fatty acid metabolism in Saccharomyces cerevisiae
van Roermund, C W T, Waterham, H R, Ijlst, L, Wanders, R J A
Published in Cellular and molecular life sciences : CMLS (01.09.2003)
Published in Cellular and molecular life sciences : CMLS (01.09.2003)
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Journal Article
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
Henneman, L, Schneiders, M. S, Turkenburg, M, Waterham, H. R
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency
Kapina, V, Sedel, F, Truffert, A, Horvath, J, Wanders, R J A, Waterham, H R, Picard, F
Published in Neurology (05.10.2010)
Published in Neurology (05.10.2010)
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Journal Article
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
Houten, S M, Frenkel, J, Waterham, H R
Published in Cellular and molecular life sciences : CMLS (01.06.2003)
Published in Cellular and molecular life sciences : CMLS (01.06.2003)
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Journal Article
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency
Derks, T. G. J., Boer, T. S., van Assen, A., Bos, T., Ruiter, J., Waterham, H. R., Niezen-Koning, K. E., Wanders, R. J. A., Rondeel, J. M. M., Loeber, J. G., ten Kate, L. P., Smit, G. P. A., Reijngoud, D.-J.
Published in Journal of inherited metabolic disease (01.02.2008)
Published in Journal of inherited metabolic disease (01.02.2008)
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Journal Article
Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
Waterham, Hans R, Poll-The, Bwee Tien, Houten, Sander M, Kuis, Wietse, Duran, Marinus, de Koning, Tom J, van Royen-Kerkhof, Annet, Romeijn, Gerrit J, Frenkel, Joost, Dorland, Lambertus, de Barse, Martina M.J, Huijbers, Wim A.R, Rijkers, Ger T, Wanders, Ronald J.A
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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Journal Article
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase
Ferdinandusse, S, Denis, S, IJlst, L, Dacremont, G, Waterham, H R, Wanders, R J
Published in Journal of lipid research (01.11.2000)
Published in Journal of lipid research (01.11.2000)
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Journal Article
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
Wanders, Ronald J.A, Ferdinandusse, Sacha, Denis, Simone, Clayton, Peter T, Graham, Andrew, Rees, John E, Allen, John T, McLean, Brendan N, Brown, Ann Y, Vreken, Peter, Waterham, Hans R
Published in Nature genetics (01.02.2000)
Published in Nature genetics (01.02.2000)
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Journal Article
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D
Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J. A., Rijkers, G. T., Duran, M., Kuijpers, T. W., van Luijk, W., Poll‐The, B. T., Kuis, W.
Published in Rheumatology (Oxford, England) (01.05.2001)
Published in Rheumatology (Oxford, England) (01.05.2001)
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Journal Article
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
Waterham, Hans R., Wijburg, Frits A., Hennekam, Raoul C.M., Vreken, Peter, Poll-The, Bwee Tien, Dorland, Lambertus, Duran, Marinus, Jira, Petr E., Smeitink, Jan A.M., Wevers, Ron A., Wanders, Ronald J.A.
Published in American journal of human genetics (01.08.1998)
Published in American journal of human genetics (01.08.1998)
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Journal Article
High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease
Oey, N. A., Den Boer, M. E. J., Ruiter, J. P. N., Wanders, R. J. A., Duran, M., Waterham, H. R., Boer, K., der Post, J. A. M., Wijburg, F. A.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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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
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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Journal Article
High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Association with Epilepsy of Unknown Origin in Childhood
van Maldegem, B. T., Kloosterman, S. F., Janssen, W. J., Augustijn, P. B., van der Lee, J. H., IJlst, L., Waterham, H. R., Duran, R., Wanders, R. J. A., Wijburg, F. A.
Published in Neuropediatrics (01.02.2011)
Published in Neuropediatrics (01.02.2011)
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