Research Topics
Genomes and Genes | W J KleijerSummaryAffiliation: Erasmus University Country: The Netherlands Publications
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Publications
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VIIR Vervoort
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium
Am J Hum Genet 58:457-71. 1996....
First-trimester diagnosis of Morquio disease type AW J Kleijer
Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands
Prenat Diagn 20:183-5. 2000..The results of the present prospective prenatal analyses confirm our previous retrospective studies and demonstrate the reliability and convenience of the 4-methylumbelliferyl substrate...- First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysisW J Kleijer
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands
Prenat Diagn 21:99-101. 2001..The expression of unequivocal TPP-I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL... - Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesW J Kleijer
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
J Inherit Metab Dis 25:399-410. 2002..In addition, we present an improved biochemical assay for accurate prenatal and postnatal diagnosis... - Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
Hum Mutat 11:209-15. 1998..As a result there was an overall deficiency of catalytic activity, which is in accordance with the findings in the patients fibroblasts and with the clinical phenotype... - A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)O P van Diggelen
Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands
Clin Chim Acta 187:131-9. 1990..In cell extracts with a beta-galactosidase deficiency however, a second incubation in the presence of excess beta-galactosidase is needed to avoid underestimation of galactose-6-sulphate sulphatase activity... - First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisB B de Vries
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands
Prenat Diagn 19:559-62. 1999..This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene... - Deletion of exon 18 is a frequent mutation in glycogen storage disease type IIM van der Kraan
Dept of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Biochem Biophys Res Commun 203:1535-41. 1994..The exon 18 deletion was demonstrated in 10 out of 39 patients from Europe (all hetero-allelic) and is so far the most common mutation in this disease (allele frequency among patients is 0.13)... - Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assayJ L M Keulemans
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
Prenat Diagn 22:1016-21. 2002..This novel IDS assay was validated in retrospective analyses of 14 CV, CV-cell, AF and AF-cell samples from affected pregnancies in addition to prospective prenatal diagnosis in eight pregnancies at risk with one MPS II-affected fetus... - Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assayH Zhao
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Prenat Diagn 10:85-91. 1990..These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one... - Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2)O P van Diggelen
Department of Clinical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands
Eur J Paediatr Neurol 5:189-92. 2001..The first patient with adult neuronal ceroid lipofuscinosis (ANCL) due to a deficiency of PPT is presented; her present age is 53 years and the onset of the disease was at 38 years with psychiatric symptoms... - The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type IIM M Hermans
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Hum Mol Genet 3:2213-8. 1994..The delta T525 deletion was detected in two other unrelated patients, and also the C1634T transition was encountered in two more Caucasian patients with GSDII... - Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish populationE A Sistermans
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
Eur J Hum Genet 8:557-60. 2000..A deletion of exon4, which until now had only been described once, was revealed in all five alleles of Turkish origin tested, indicating that this is a founder effect in the Turkish population... - First trimester diagnosis of Wolman's diseaseO P van Diggelen
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Prenat Diagn 8:661-3. 1988..The higher specificity of the enzyme for the latter, natural, substrate makes it superior in prenatal diagnosis... - Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosisA Morrone
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
Hum Mutat 3:112-20. 1994..We propose that this single base insertion is the mutation responsible for aberrant splicing of beta-galactosidase pre-mRNA, giving rise to transcripts that cannot encode a normal protein... - Juvenile hyaline fibromatosis: clinical heterogeneity in three patientsG M Mancini
Department of Clinical Genetics, Department of Pathology, Erasmus University, Rotterdam, The Netherlands
Dermatology 198:18-25. 1999..Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap... - Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndromeM M van Haelst
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University Rotterdam, Westzeedijk 112, 3015 AH Rotterdam, The Netherlands
Am J Med Genet 104:65-8. 2001..1993: Am J Med Genet 47:494-503]. Although it was previously only reported in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggests it to be an autosomal recessive entity... - A temperature-sensitive disorder in basal transcription and DNA repair in humansW Vermeulen
MGC, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University, P O Box 1738, Rotterdam, The Netherlands
Nat Genet 27:299-303. 2001..Our findings reveal the clinical consequences of impaired basal transcription and mutations in very fundamental processes in humans, which previously were only known in lower organisms... - Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic diseaseA M Sijbers
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
J Invest Dermatol 110:832-6. 1998..Biochemical, genetic, and clinical data all indicate the presence of considerable residual repair activity, strongly suggesting that the R788W mutation is leaky... - Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domainsC H Lim
Department of Biochemistry, Erasmus University Medical Center, Rotterdam, The Netherlands
Acta Physiol (Oxf) 187:295-303. 2006..CONCLUSIONS: The results support a model of regulatory volume decrease involving recruitment of volume-sensitive anion channels from intracellular compartments to the plasma membrane... - Glycogenosis type II (acid maltase deficiency)A J Reuser
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Muscle Nerve Suppl 3:S61-9. 1995..The genotype-phenotype correlation and the prospects for therapy are addressed... - Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassayD A Aitken
Clin Genet 17:293-8. 1980..It is suggested that the radioassay method offers significant advantages in sensitivity and specificity over the standard spectrophotometric procedure... - Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patientsM A Kroos
J Med Genet 32:836-7. 1995 - Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemiaJ Haberle
Klinik und Poliklinik für Kinderheilkunde, Universitatsklinikum Munster, Albert Schweitzer Str 33, 48149 Munster, Germany
Hum Genet 110:327-33. 2002.... - [From gene to disease; Krabbe disease and galactosylceramidase deficiency]W J Kleijer
afd Klinische Genetica, Erasmus Medisch Centrum, Postbus 1738, 3000 DR Rotterdam
Ned Tijdschr Geneeskd 148:826-8. 2004..Early diagnosis by enzyme assay in leukocytes or skin fibroblasts permits timely genetic counselling and prenatal diagnosis, which is reliably made by enzyme or mutation analysis in the chorionic villi... - Prenatal diagnosis of Lesch-Nyhan diseaseW J Kleijer
Prenat Diagn 24:658-9; author reply 659. 2004 - Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs diseaseA Alpman
Genet Couns 15:99-100. 2004 - Possible genotype-phenotype correlations in children with mild clinical course of Canavan diseaseU Tacke
Department of Paediatric Neurology and Muscle Disease, University Children's Hospital, Freiburg, Germany
Neuropediatrics 36:252-5. 2005..In the third individual, two homozygous sequence variants were identified, which comprise the known G274R mutation and a novel K213E variant... - Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancyJ M Graham
Medical Genetics Birth Defects Center, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA
Am J Hum Genet 69:291-300. 2001..This result strongly underlines the need for screening of patients with COFS syndrome, for either UV sensitivity or DNA-repair abnormalities... - A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker
Laboratory of Genetic Metabolic Diseases and Department of Clinical Genetics Pediatrics Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Hum Mutat 27:640-3. 2006..This is the first report of methylmalonyl-CoA epimerase deficiency, thereby unequivocally demonstrating the biochemical role of this enzyme in human metabolism... - Studies on the pathogenesis of Costello syndromeG M S Mancini
J Med Genet 40:e37. 2003 - Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeS Bunge
Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
Hum Mutat 10:223-32. 1997..In a Polish family, two mildly affected siblings were compound heterozygotes for R94G and R259Q. Their mother was homozygous for the latter point mutation, leading to enzyme deficiency and a borderline disease phenotype... - Morquio B syndrome: a primary defect in beta-galactosidaseG T van der Horst
Am J Med Genet 16:261-75. 1983..The catalytic properties of beta-galactosidase in Morquio B syndrome and GM1-gangliosidosis provide a possible explanation for the distinct clinical manifestations in these disorders... - Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase geneS Bunge
, , , Germany
Hum Mutat 6:91-4. 1995 - Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinM J Ligtenberg
Department of Human Genetics, University Hospital Nijmegen, The Netherlands
Am J Hum Genet 56:44-50. 1995..This overview of mutations is useful in the determination of structurally and functionally important regions and provides an efficient screening strategy for identification of mutations in the ALD gene... - Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patientsS Bunge
Institut fur Humangenetik, Medizinische Universitat, Lubeck, Germany
Hum Mol Genet 3:861-6. 1994..5 times more frequent (48%) than Q70X (19%). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs... - Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptorsE R van der Vorm
Department of Medical Biochemistry, Sylvius Laboratories, State University, Leiden, The Netherlands
Diabetologia 36:172-4. 1993..These findings demonstrate that the primary genetic lesion in Seip-Berardinelli's lipodystrophy is outside the insulin receptor gene and that an involvement of the insulin-like growth factor I receptor is also unlikely... - Novel mutations in Sanfilippo A syndrome: implications for enzyme functionB Weber
Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
Hum Mol Genet 6:1573-9. 1997..8% in patients from The Netherlands. The identification of mutations common in certain geographic regions or ethnic groups will help in the diagnosis of MPS IIIA and allow carrier testing and improved genetic counselling... - Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)S Bunge
Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
Hum Mutat 10:479-85. 1997.... - Clinical, biochemical and molecular findings in a two-generation Morquio A familyA Tylki-Szymanska
Department of Metabolic Diseases, The Children s Memorial Health Institute, Warsaw, Poland
Clin Genet 53:369-74. 1998..The mother and her affected siblings with the unusually mild phenotype were proven to be homozygous for the novel missense point mutation R259Q... - Identification of a common mutation (R245H) in Sanfilippo A patients from The NetherlandsB Weber
Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
J Inherit Metab Dis 21:416-22. 1998..The R245H allele had a higher prevalence in western rather than eastern regions of The Netherlands... - ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch populationA Broeks
Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam
Hum Mutat 12:330-7. 1998..The observed genetic heterogeneity including the relative high percentage of splice-site mutations had no reflection on the phenotype. All patients manifested classical A-T and increased cellular radioresistant DNA synthesis... - Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutationsS Bunge
Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
J Med Genet 36:28-31. 1999..The vast genetic heterogeneity seen in this disorder is reflected by the fact that only three of the mutations were identified in more than one patient... - The experience with the foetal diagnosis of the cystic fibrosis in the second and first trimesterM Macek
Department of Medical Genetics, Faculty of Pediatrics Prague, Czechoslovakia
Acta Univ Carol Med (Praha) 36:120-8. 1990..The importance of fetal karyotyping and ultrasound elimination of other severe congenital anomalies is pointed out for critical interpretation of microvillar enzyme activities testing.(ABSTRACT TRUNCATED AT 250 WORDS)..