Zobrazeno 1 - 10 of 74 pro vyhledávání: '"An A.J.M. Bakkeren"'
1
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria
Autor: Peter Vreken, A. H. van Gennip, Jan J. Rotteveel, Jan A.J.M. Bakkeren, A. B. P. Van Kuilenburg, R.A. de Abreu, G.H. van Lenthe
Publikováno v: Journal of inherited metabolic disease, 20, 339-342. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, pp. 339-342
Journal of Inherited Metabolic Disease, 20, 339-342
Journal of inherited metabolic disease, 20(3), 339-342. Springer Netherlands
Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the degradation of both dihydrouracil and dihydrothymine to N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid, respec
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb9120977e27456069ea416a672d656
https://doi.org/10.1023/a:1005309423960
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2
Light Chain Ratios and Concentrations of Immunoglobulins G, A, And M in Childhood Common Acute Lymphoblastic Leukemia
Autor: Corry M.R. Weemaes, W. J. van Dijk, G. A. M. de Vaan, Jan A.J.M. Bakkeren, Ásgeir Haraldsson
Publikováno v: Pediatric Hematology and Oncology. 11:83-90
The light chain ratios and the concentrations of immunoglobulin G (IgG), IgA, and IgM were measured before, during, and after antileukemic therapy in 10 patients with common acute lymphoblastic leukemia. The concentrations of IgG, IgA, and IgM decrea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fa4534c4b95dd7bab3d78c047ffa0b7
https://doi.org/10.3109/08880019409141904
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3
Immunological studies in the hyper-immunoglobulin D syndrome
Autor: G. B. A. Stoelinga, Jan A.J.M. Bakkeren, A.W. de Boer, Corry M.R. Weemaes, Ásgeir Haraldsson
Publikováno v: Journal of Clinical Immunology. 12:424-428
Five patients with hyper-immunoglobulin D syndrome (hyper-IgD syndrome) were followed up for 3 to 8 years. In all patients studied, serum IgG3 was high. IgM decreased during the follow-up in all patients. In four of the patients serum IgA was elevate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99383b05ba99a637d8f2c07aaac53b84
https://doi.org/10.1007/bf00918854
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4
Immunoglobulin G, A and M Light Chain Ratio in Children
Autor: Ásgeir Haraldsson, M J H Kock-Jansen, T de Boo, G. B. A. Stoelinga, Corry M.R. Weemaes, P B J M v Eck-Arts, Jan A.J.M. Bakkeren
Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 29:271-274
Values for the kappa/lambda light chain ratio in immunoglobulins G, A and M and the total kappa/lambda ratio, measured by enzyme linked immunosorbent assay, were evaluated in serum samples from different age groups (114 children, aged from 1 month to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40f16d5d67d4a6b3f6045333de0c02d3
https://doi.org/10.1177/000456329202900303
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5
Griscelli disease with cerebral involvement
Autor: Corry M.R. Weemaes, Jan A.J.M. Bakkeren, R. Happle, Ásgeir Haraldsson
Publikováno v: European Journal of Pediatrics. 150:419-422
A 9-month-old Turkish boy was diagnosed as having Griscelli disease (Chediak-Higashi-like syndrome). Clinical signs consisted of silver-grey hair and a relatively light skin colour, recurrent episodes of fever, with or without detectable infections,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732683b4ed70ccfd883098eb449ba4b0
https://doi.org/10.1007/bf02093723
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6
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose
Autor: Frits A. Wijburg, Jan A.J.M. Bakkeren, R. J. A. Wanders, Wim Ruitenbeek, Jos P.N. Ruiter, J. M. F. Trijbels, N. Feller, R. C. A. Sengers
Publikováno v: Journal of inherited metabolic disease, 15(1), 84-91. Springer Netherlands
Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or treated with azide, an inhibitor of cytochrome c oxidase, or other inhibitors of the mitochondrial r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40314a1c3e61343589bcb6c3155cfccb
https://doi.org/10.1007/bf01800349
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7
Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
Autor: H.H. Ropers, W. Tünte, A. J. M. Hoogeboom, P. D. Maaswinkel-Mooy, Jan A.J.M. Bakkeren, B.A. van Oost, B.C.J. Hamel, P. M. van Zandvoort, H.G. Brunner
Publikováno v: Human Genetics. 86:404-407
We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21831dfb38cf1b8a09878a863cb885ce
https://doi.org/10.1007/bf00201845
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8
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients
Autor: Cornelis Jakobs, Daniel L. Bluestone, Ernst Christensen, Allie Moosa, Cesar Santos, Joyce A. Kobori, Daniel Rabier, F Aksu, Dietrich Matern, Klaus Raab, Pierre Beauvais, Brigitte Vollmer, Todd F. Barron, Willy Lehnert, Janice E. Finkelstein, Hans Peter Weber, Gerhard Hammersen, K. Michael Gibson, Brian Fowler, Richard Umansky, Jan A.J.M. Bakkeren, Eva Rossier, Michael Clarke, A. Kimberly Iafolla, Oebele F. Brouwer, Fons J. M. Gabreëls
Publikováno v: Pediatrics (Evanston), 99, 567-574
Pediatrics (Evanston), 99, pp. 567-574
Karolinska Institutet
Pediatrics (Evanston), 99, 4, pp. 567-574
Objectives. To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cf8205fcec461aac75b58b762ec3f7
http://hdl.handle.net/2066/25009
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9
Dihydropyrimidinase deficiency, a progressive neurological disorder?
Autor: Ron A. Wevers, Jan A.J.M. Bakkeren, Jan J. Rotteveel, A. H. van Gennip, C.W.M.M. Putman, R.A. de Abreu
Publikováno v: Neuropediatrics, 28, 106-110
Neuropediatrics, 28, pp. 106-110
Neuropediatrics, 28, 2, pp. 106-110
A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded and acquired skills minimally. The head circumference centile decreased. Magnetic resonance imaging showed progressive n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9129808c3d45b2f1eb01e23908a496
http://hdl.handle.net/2066/25652
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10
Neonatal lethal mitochondrial trifunctional protein (MTP) deficiency mimicking a respiratory chain defect
Autor: S. Grunewald, Udo Wendel, Jan A.J.M. Bakkeren, R. J. A. Wanders
Publikováno v: Journal of Inherited Metabolic Disease, 20, 835-836
Journal of Inherited Metabolic Disease, 20, pp. 835-836
Journal of inherited metabolic disease, 20, 835-836. Springer Netherlands
Journal of inherited metabolic disease, 20(6), 835-836. Springer Netherlands
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf8ef416c92409e4a4dc944b8c58d95
http://hdl.handle.net/2066/275072
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