Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
VAN KUILENBURG, A. B. P, VREKEN, P, CHRISTENSEN, E, HOLOPAINEN, I, PULKKI, K, RIVA, D, BOTTEON, G, HOLME, E, TULINIUS, M, KLEIJER, W. J, BEEMER, F. A, DURAN, M, ABELING, N. G. G. M, NIEZEN-KONING, K. E, SMIT, G. P. A, JAKOBS, C, SMIT, L. M. E, MOOG, U, SPAAPEN, L. J. M, VAN GENNIP, A. H, BAKKER, H. D, MEINSMA, R, VAN LENTHE, H, DE ABREU, R. A, SMEITINK, J. A. M, KAYSERILI, H, APAK, M. Y
Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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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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Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia
HÄBERLE, J, PAULI, S, LINNEBANK, M, KLEIJER, W. J, BAKKER, H. D, WANDERS, R. J. A, HARMS, E, KOCH, H. G
Published in Human genetics (01.04.2002)
Published in Human genetics (01.04.2002)
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Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
Tacke, U, Olbrich, H, Sass, J O, Fekete, A, Horvath, J, Ziyeh, S, Kleijer, W J, Rolland, M-O, Fisher, S, Payne, S, Vargiami, E, Zafeiriou, D I, Omran, H
Published in Neuropediatrics (01.08.2005)
Published in Neuropediatrics (01.08.2005)
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Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains
Lim, C. H., Schoonderwoerd, K., Kleijer, W. J., De Jonge, H. R., Tilly, B. C.
Published in Acta Physiologica (01.05.2006)
Published in Acta Physiologica (01.05.2006)
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Conference Proceeding
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan‐Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G.
Published in Journal of inherited metabolic disease (01.09.2002)
Published in Journal of inherited metabolic disease (01.09.2002)
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Journal Article
Glycogenosis type II (acid maltase deficiency)
Reuser, A J, Kroos, M A, Hermans, M M, Bijvoet, A G, Verbeet, M P, Van Diggelen, O P, Kleijer, W J, Van der Ploeg, A T
Published in Muscle & nerve. Supplement (1995)
Published in Muscle & nerve. Supplement (1995)
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Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
VERMEULEN, W, SCOTT, R. J, RODGERS, S, MÜLLER, H. J, COLE, J, ARLETT, C. F, KLEIJER, W. J, BOOTSMA, D, HOEIJMAKERS, J. H. J, WEEDA, G
Published in American journal of human genetics (01.02.1994)
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Published in American journal of human genetics (01.02.1994)
Journal Article
Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late-Onset Neurologic Disease
Sijbers, Anneke M., van Voorst Vader, Pieter C., Snoek, Jos W., Raams, Anja, Jaspers, Nicolaas G.J., Kleijer, Wim J.
Published in Journal of investigative dermatology (01.05.1998)
Published in Journal of investigative dermatology (01.05.1998)
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Human β-Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human β-Mannosidosis
Alkhayat, Aisha H., Kraemer, Stacey A., Leipprandt, Jeffrey R., Macek, Milan, Kleijer, Wim J., Friderici, Karen H.
Published in Human molecular genetics (01.01.1998)
Published in Human molecular genetics (01.01.1998)
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Journal Article
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
Bondeson, M L, Dahl, N, Malmgren, H, Kleijer, W J, Tönnesen, T, Carlberg, B M, Pettersson, U
Published in Human molecular genetics (01.04.1995)
Published in Human molecular genetics (01.04.1995)
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Journal Article
Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients
Mancini, G.M.S., Stojanov, L., Willemsen, R., Kleijer, W.J., Huijmans, J.G.M., van Diggelen, O.P., de Klerk, J.B.C., Vuzevski, V.D., Oranje, A.P.
Published in Dermatology (Basel) (01.01.1999)
Published in Dermatology (Basel) (01.01.1999)
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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
VERVOORT, R, RAFIQUL ISLAM, M, SLY, W. S, ZABOT, M.-T, KLEIJER, W. J, CHABAS, A, FENSOM, A, YOUNG, E. P, LIEBAERS, I, LISSENS, W
Published in American journal of human genetics (01.03.1996)
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Published in American journal of human genetics (01.03.1996)
Journal Article
In‐utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
Den Hollander, N. S., Kleijer, W. J., Schoonderwaldt, E. M., Los, F. J., Wladimiroff, J. W., Niermeijer, M. F.
Published in Ultrasound in obstetrics & gynecology (01.07.2000)
Published in Ultrasound in obstetrics & gynecology (01.07.2000)
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Voznyi, Y V, Keulemans, J L M, Mancini, G M S, Catsman-Berrevoets, C E, Young, E, Winchester, B, Kleijer, W J, van Diggelen, O P
Published in Journal of medical genetics (01.06.1999)
Published in Journal of medical genetics (01.06.1999)
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Journal Article
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population
Broeks, A, de Klein, A, Floore, AN, Muijtjens, M, Kleijer, WJ, Jaspers, NG, van 't Veer, LJ
Published in Human mutation (1998)
Published in Human mutation (1998)
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Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function
Weber, Birgit, Guo, Xiao-Hui, Wraith, J. Ed, Cooper, Alan, Kleijer, Wim J., Bunge, Susanna, Hopwood, John J.
Published in Human molecular genetics (01.09.1997)
Published in Human molecular genetics (01.09.1997)
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Journal Article
Cranial MRI in the Nijmegen breakage syndrome
BEKIESINSKA-FIGATOWSKA, M, CHRZANOWSKA, K. H, SIKORSKA, J, WALECKI, J, KRAJEWSKA-WALASEK, M, JOZWIAK, S, KLEIJER, W. J
Published in Neuroradiology (01.01.2000)
Published in Neuroradiology (01.01.2000)
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Journal Article
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
Sjarif, D R, Sinke, R J, Duran, M, Beemer, F A, Kleijer, W J, Ploos van Amstel, J K, Poll-The, B T
Published in Journal of medical genetics (01.08.1998)
Published in Journal of medical genetics (01.08.1998)
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