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)
Get full text
Journal Article
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)
Get full text
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)
Get more information
Journal Article
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)
Get more information
Journal Article
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)
Get full text
Journal Article
Conference Proceeding
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)
Get full text
Journal Article
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)
Get full text
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)
Get more information
Journal Article
Genotype versus phenotype in families with androgen insensitivity syndrome
BOEHMER, Annemie L. M, BRÜGGENWIRTH, Hennie, KLEIJER, Wim J, VAN DER KWAST, Theo H, DE VROEDE, Monique A, DROP, Stenvert L. S, VAN ASSENDELFT, Cissy, OTTEN, Barto J, VERLEUN-MOOIJMAN, Marja C. T, NIERMEIJER, Martinus F, BRUNNER, Han G, ROUWE, Catrienus W, WAELKENS, J. J, OOSTDIJK, Wilma
Published in The journal of clinical endocrinology and metabolism (01.09.2001)
Published in The journal of clinical endocrinology and metabolism (01.09.2001)
Get full text
Journal Article
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)
Get full text
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)
Get more information
Journal Article
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)
Get full text
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)
Get full text
Journal Article
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Bunge, Susanna, Knigge, Astrid, Steglich, Cordula, Kleijer, Wim J, van Diggelen, Otto P, Beck, Michael, Gal, Andreas
Published in Journal of medical genetics (01.01.1999)
Published in Journal of medical genetics (01.01.1999)
Get full text
Journal Article
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)
Get full text
Journal Article
Molecular Analysis of Mutations in DNA Polymerase η in Xeroderma Pigmentosum-Variant Patients
Broughton, Bernard C., Cordonnier, Agnes, Kleijer, Wim J., Nicolaas G. J. Jaspers, Fawcett, Heather, Raams, Anja, Garritsen, Victor H., Stary, Anne, Avril, Marie-Françoise, Boudsocq, François, Masutani, Chikahide, Hanaoka, Fumio, Fuchs, Robert P., Sarasin, Alain, Lehmann, Alan R.
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2002)
Get full text
Journal Article
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)
Get full text
Journal Article
Studies on the pathogenesis of Costello syndrome
Mancini, G M S, van Diggelen, O P, Kleijer, W J, Di Rocco, M, Farina, V, Yuksel-Apak, M, Kayserili, H, Halley, D J J
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
Get full text
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)
Get full text
Journal Article