Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders von Wanders, RJA, Waterham, HR

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The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy) von 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

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MRI as diagnostic tool in early-onset peroxisomal disorders von VAN DER KNAAP, M. S, WASSMER, E, WOLF, N. I, FERREIRA, P, TOPCU, M, WANDERS, R. J. A, WATERHAM, H. R, FERDINANDUSSE, S

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Clinical variability of isovaleric acidemia in a genetically homogeneous population von Dercksen, M., Duran, M., IJlst, L., Mienie, L. J., Reinecke, C. J., Ruiter, J. P. N., Waterham, H. R., Wanders, R. J. A.

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Fatty acid metabolism in Saccharomyces cerevisiae von van Roermund, C W T, Waterham, H R, Ijlst, L, Wanders, R J A

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RELAPSING RHABDOMYOLYSIS DUE TO PEROXISOMAL α-METHYLACYL-COA RACEMASE DEFICIENCY von KAPINA, V, SEDEL, F, TRUFFERT, A, HORVATH, J, WANDERS, R. J. A, WATERHAM, H. R, PICARD, F

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Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation von Houten, S M, Frenkel, J, Waterham, H R

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Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency von Henneman, L, Schneiders, M. S, Turkenburg, M, Waterham, H. R

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Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome von 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

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Subcellular localization and physiological role of alpha-methylacyl-CoA racemase von Ferdinandusse, S, Denis, S, IJlst, L, Dacremont, G, Waterham, H R, Wanders, R J

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Inherited disorders of cholesterol biosynthesis von Waterham, HR

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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy von Hamel, Ben C. J., Willemsen, M. A. A. P., Mbwasi, R. M., Mc Larty, R., Sadiq, A. M., Dekker, Marieke C. J., Waterham, H. R.

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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency von 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.

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Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy von 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

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A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease von Smits, B.M., Lelieveld, P.H.C., Ververs, F.A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H.L., Boelens, J.J., Lindemans, C.A., Bloem, A.C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M.E., Geerke, D.P., Waterham, H.R., Koenderman, L., Boes, M.

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Identification of human PMP34 as a peroxisomal ATP transporter von Visser, W.F, van Roermund, C.W.T, Waterham, H.R, Wanders, R.J.A

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Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene von 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.

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene von Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha

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Development and validation of a severity scoring system for Zellweger spectrum disorders von Klouwer, F.C.C., Meester‐Delver, A., Vaz, F.M., Waterham, H.R., Hennekam, R.C.M., Poll‐The, B.T.

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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D von 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.

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