Výsledky vyhledávání - "W. J. Kleijer"

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay

Autor: J. L. M. Keulemans, I. Sinigerska, J. G. M. Huijmans, W. J. Kleijer, Victor H. Garritsen, O. P. van Diggelen, Y. V. Voznyi

Publikováno v: Prenatal Diagnosis, 22, 1016-1021. John Wiley & Sons Ltd.

Prenatal diagnosis of the Hunter syndrome (mucopolysaccharidosis type II; MPS II) is preferably achieved by the assay of iduronate-2-sulphate sulphatase (IDS) in uncultured chorionic villi (CV) as this allows early (12th week), rapid (2–3 days) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e03791007ead57a0a2726f3094e7c0c1
https://doi.org/10.1002/pd.457

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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

Autor: Bryan Winchester, Y V Voznyi, Coriene E. Catsman-Berrevoets, Elisabeth Young, J. L. M. Keulemans, O. P. van Diggelen, G.M.S. Mancini, W. J. Kleijer

Publikováno v: Journal of Medical Genetics, 36, 471-474. BMJ Publishing Group

Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available enzyme assay is complicated and impractical for diagnostic use and is, in practice, unavaila

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f5c8def704b5283718a0b61c0b4ba2
https://doi.org/10.1136/jmg.36.6.471

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First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

Autor: Patrick Franken, Peter E.M. Taschner, B. B. A. De Vries, O. P. van Diggelen, J. L. M. Keulemans, Coriene E. Catsman-Berrevoets, W. J. Kleijer, M. C. M. Eurlings, Martijn H. Breuning, Robert Jan H. Galjaard, Monique Losekoot, Y. V. Voznyi

Publikováno v: Prenatal Diagnosis. 19:559-562

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da97930ec09d89781801669748beb33d
https://doi.org/10.1002/(sici)1097-0223(199906)19:6<559::aid-pd587>3.0.co

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Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

Autor: Grazia M.S. Mancini, L. Stojanov, J. G. M. Huijmans, Ruben H. Willemsen, J. B. C. de Klerk, O. P. van Diggelen, V.D. Vuzevski, W. J. Kleijer, Arnold P. Oranje

Publikováno v: Dermatology, 198, 18-25. Karger

Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d09a1d46f20be3b0a09f8f636c643b8
https://doi.org/10.1159/000018058

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β-Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

Autor: A. J. van Essen, W. J. Kleijer, H. W. F. van Eyndhoven, H. G. ter Brugge

Publikováno v: Prenatal Diagnosis. 18:959-962

We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week

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https://doi.org/10.1002/(sici)1097-0223(199809)18:9<959::aid-pd372>3.0.co

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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency

Autor: D R Sjarif, W. J. Kleijer, Frits A. Beemer, Richard J. Sinke, Bwee Tien Poll-The, M. Duran, J K Ploos van Amstel

Publikováno v: Journal of medical genetics, 35(8), 650-656. BMJ Publishing Group

Isolated glycerol kinase deficiency (GKD) is an X linked recessive disorder. The clinical and biochemical picture may vary from a childhood metabolic crisis to asymptomatic adult "pseudohypertriglyceridaemia", the result of hyperglycerolaemia. We per

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93444bedc133f487f8852f7e40a7b588
https://doi.org/10.1136/jmg.35.8.650

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Pyruvate dehydrogenase complex deficiency and absence of subunit X

Autor: J Scholte, L. De Meirleir, Sara Seneca, Ingeborg Liebaers, C Benelli, J De Klerk, C Marsac, O. P. van Diggelen, Willy Lissens, W. J. Kleijer

Publikováno v: Vrije Universiteit Brussel
Journal of Inherited Metabolic Disease, 21, 9-16. Springer Netherlands

The pyruvate dehydrogenase complex (PDHc) is a multienzyme complex consisting of three catalytic and two regulatory enzymes, as well as a less well defined subunit called protein X. PDHc deficiency is a common cause of congenital lactic acidosis. Mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c6a01092339b176a7cab8684ae31e46
https://doi.org/10.1023/a:1005351012066

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PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY

Autor: O. P. van Diggelen, E. A. Karpova, J. L. M. Keulemans, J. G. M. Huijmans, W. J. Kleijer, I. V. Tsvetkova, Y. V. Voznyi, G. C. Geilen

Publikováno v: Prenatal Diagnosis. 16:829-835

We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-alpha-D-N-sulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e066f16e832e3d35339fbf371559d9c2
https://doi.org/10.1002/(sici)1097-0223(199609)16:9<829::aid-pd953>3.0.co

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Prenatal diagnosis of galactosemia

Autor: W. J. Kleijer, J. Allen, J. B. Holton, C. Jakobs

Publikováno v: European Journal of Pediatrics. 154:S33-S36

The experience from three different European centres with the prenatal diagnosis of galactose-1-phosphate-uridyltransferase (GALT) deficiency is presented and the question whether or not there is a need for prenatal diagnosis of this disorder is disc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::733319a762c667d0be94cfdf672d03b2
https://doi.org/10.1007/bf02143800

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