Search Results - "Kleijer, W J"

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency by 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

“…Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has…”
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Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy by LINNEBANK, M, KEMP, S, SCHLEGEL, U, SCHMIDT, S, KLOCKGETHER, T, WÜLLNER, U, WANDERS, R. J. A, KLEIJER, W. J, VAN DER STERRE, M. L. T, GÄRTNER, J, FLIESSBACH, K, SEMMLER, A, SOKOLOWSKI, P, KÖHLER, W

“…A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of…”
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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 by HÄBERLE, J, PAULI, S, LINNEBANK, M, KLEIJER, W. J, BAKKER, H. D, WANDERS, R. J. A, HARMS, E, KOCH, H. G

“…Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia, an autosomal recessive inherited defect of the urea cycle. Most patients described so…”
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Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease by 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

“…Canavan disease is characterised as a rare, neurodegenerative disease that usually causes death in early childhood. It is an autosomal recessive disorder due…”
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Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains by Lim, C. H., Schoonderwoerd, K., Kleijer, W. J., De Jonge, H. R., Tilly, B. C.

“…Aim:  The role of high cholesterol‐containing microdomains in the signal transduction cascade leading to the activation of volume‐regulated anion channels…”
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Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families by 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.

“…A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases…”
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Glycogenosis type II (acid maltase deficiency) by 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

“…Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal…”
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Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3 by 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

“…The human DNA excision repair gene ERCC3 specifically corrects the nucleotide excision repair (NER) defect of xeroderma pigmentosum (XP) complementation group…”
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Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late-Onset Neurologic Disease by Sijbers, Anneke M., van Voorst Vader, Pieter C., Snoek, Jos W., Raams, Anja, Jaspers, Nicolaas G.J., Kleijer, Wim J.

“…The second Caucasian xeroderma pigmentosum patient (XP42RO) belonging to complementation group F (XP-F) is described. Mild ocular photophobia was present from…”
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Human β-Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human β-Mannosidosis by Alkhayat, Aisha H., Kraemer, Stacey A., Leipprandt, Jeffrey R., Macek, Milan, Kleijer, Wim J., Friderici, Karen H.

“…Human β-mannosidosis is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme β-mannosidase. Unlike the severe clinical…”
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Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome by Bondeson, M L, Dahl, N, Malmgren, H, Kleijer, W J, Tönnesen, T, Carlberg, B M, Pettersson, U

“…We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here,…”
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Juvenile hyaline fibromatosis: clinical heterogeneity in three patients by Mancini, G M, Stojanov, L, Willemsen, R, Kleijer, W J, Huijmans, J G, van Diggelen, O P, de Klerk, J B, Vuzevski, V D, Oranje, A P

“…Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in…”
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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII by 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

“…Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of…”
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In‐utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency by Den Hollander, N. S., Kleijer, W. J., Schoonderwaldt, E. M., Los, F. J., Wladimiroff, J. W., Niermeijer, M. F.

“…Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work‐up of an…”
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants by 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

“…Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available…”
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ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population by Broeks, A, de Klein, A, Floore, AN, Muijtjens, M, Kleijer, WJ, Jaspers, NG, van 't Veer, LJ

“…Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia‐telangiectasia (A‐T). In our study, we have determined the ATM…”
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Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function by Weber, Birgit, Guo, Xiao-Hui, Wraith, J. Ed, Cooper, Alan, Kleijer, Wim J., Bunge, Susanna, Hopwood, John J.

“…Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of…”
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The p53-mediated DNA damage response to ionizing radiation in fibroblasts from ataxia-without-telangiectasia patients by JONGMANS, W, VUILLAUME, M, KLEIJER, W. J, LAKIN, N. D, HALL, J

“…Purpose: To assess the functionality of the p53-mediated pathway, activated by the ataxia-telangiectasia gene product (ATM) in response to ionizing radiation,…”
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Cranial MRI in the Nijmegen breakage syndrome by BEKIESINSKA-FIGATOWSKA, M, CHRZANOWSKA, K. H, SIKORSKA, J, WALECKI, J, KRAJEWSKA-WALASEK, M, JOZWIAK, S, KLEIJER, W. J

“…We present the results paragraph signof MRI examinations in ten patients with documented Nijmegen paragraph signbreakage syndrome (NBS), aged 1.75-19 years…”
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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency by Sjarif, D R, Sinke, R J, Duran, M, Beemer, F A, Kleijer, W J, Ploos van Amstel, J K, Poll-The, B T

“…Isolated glycerol kinase deficiency (GKD) is an X linked recessive disorder. The clinical and biochemical picture may vary from a childhood metabolic crisis to…”
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