Výsledky vyhledávání - "L. J. M. Spaapen"

To Test or Not to Test? Metabolic Testing in Adolescents and Adults With Intellectual Disability

Autor: Christine E. M. de Die-Smulders, Herman Martens, Ute Moog, Connie Schrander-Stumpel, L. J. M. Spaapen

Publikováno v: Journal of Policy and Practice in Intellectual Disabilities. 5:167-173

In order to add to the knowledge on adult phenotypes of metabolic disorders associated with intellectual disability (ID) and to evaluate criteria for recommending metabolic testing of adolescents and adults with unexplained ID, the authors analyzed r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a6e27f6c78f969d5c19449c47821679
https://doi.org/10.1111/j.1741-1130.2008.00169.x

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Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

Autor: Jaak Jaeken, Jaap A. Bakker, Richard Steet, H. J. Sijstermans, L. J. M. Spaapen, S. B. van der Meer, Ron A. Wevers

Publikováno v: Journal of Inherited Metabolic Disease, 28, 5, pp. 707-14
Journal of Inherited Metabolic Disease, 28, 707-14

Contains fulltext : 48723.pdf (Publisher’s version ) (Closed access) Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96af222bfb63c8e8448a8c05e0262e79
https://doi.org/10.1007/s10545-005-0015-z

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Carbohydrate-deficient transferrin values in neonatal and umbilical cord blood

Autor: L. J. M. Spaapen, M. H. Velmans, Jaap A. Bakker, J.A. van Pelt

Publikováno v: Journal of Inherited Metabolic Disease. 19:253-256

The carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly defined inherited multisystemic disease with severe nervous system involvement. Since the initial report in 1980 by Jaeken et al more than 120 patients all over the world have been de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d6e0f5b792272be7170494a968d0830
https://doi.org/10.1007/bf01799443

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Recurrent Leg Ulcers in a Young Man with Hyperhomocysteinemia, Factor V Leiden and Impaired Fibrinolysis

Autor: D. N. Kolbach, J. C. J. M. Veraart, K. Hamulyak, H. A. M. Neumann, L. J. M. Spaapen

Publikováno v: Acta Dermato-Venereologica. 82:52-54

We present a young male patient referred to our hospital with leg ulcers on both legs that were more than 3 years refractory to standard treatment with compression therapy. By thrombophilia screening factor V Leiden mutation, hyperhomocysteinemia and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce44056bfc5f9ec061c85bdb0873b472
https://doi.org/10.1080/000155502753600902

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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Autor: L. J. M. Spaapen, A. A. M. Haagen, T. J. de Koning, L. Tabatabaie, Leo W. J. Klomp, Lambertus Dorland, M. E. Rubio-Gozalbo

Publikováno v: Journal of Inherited Metabolic Disease, 34(1), 181-184. Wiley
Journal of Inherited Metabolic Disease, 34(1), 181-184. SPRINGER
Journal of Inherited Metabolic Disease

UNLABELLED: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11ddb45401d198a553def2eed0ac01cc
https://cris.maastrichtuniversity.nl/en/publications/cdd54c11-942e-4c8c-9381-d30cf6d40774

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Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy

Autor: L. J. M. Spaapen, P. C. A. J. Vroomen, A. Verrips, D. A. van Waardenburg, P Ph Forget, M. E. Rubio-Gozalbo

Publikováno v: Journal of Inherited Metabolic Disease, 24(5), 605-606. Wiley
Journal of Inherited Metabolic Disease, 24, 5, pp. 605--6
Journal of Inherited Metabolic Disease, 24, 605--6

Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.Rubio-Gonzalbo ME, van Waardenburg DA, Forget PP, Spaapen LJ, Verrips A, Vroomen PC.Department of Paediatrics, University Hospital Maastricht, The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a83da912923413549224b8344bd5106
https://cris.maastrichtuniversity.nl/en/publications/6f1eb8db-9599-40be-9dc7-9a0fd9e106ec

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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Publikováno v: Human Genetics, 104, pp. 1-9
Human Genetics, 104, 1-9
University of Groningen

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d07f66b4d2aa5932439fc9dfc6bb3ac
https://hdl.handle.net/2066/184782

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Gas chromatography method for the separation of amino acids enantiomers in plasma and urine. Application in a case of short bowel syndrome

Autor: Sybe K. Wadman, S.B. Van der Meer, L. J. M. Spaapen, D. Ketting, Marinus Duran

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 204(1-3)

Urinary amino acids were isolated from the urine of healthy controls and a patient with a short bowel syndrome. Following derivatization with isopropylalcohol/HCl and trifluoroacetic anhydride the amino acid enantiomers were separated by gas chromato

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2e2ba30faff0e781b2e145c16bda04
https://pubmed.ncbi.nlm.nih.gov/1819475

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