Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Metabolic Processes (Non MeSH)"'
Autor:
Gerrit Smit, Henk D. Bakker, A. B. P. Van Kuilenburg, Rutger Meinsma, A. H. van Gennip, Peter Vreken, R.A. de Abreu
Publikováno v:
Journal of Inherited Metabolic Disease, 19, 645-654
Journal of Inherited Metabolic Disease, 19, pp. 645-654
Journal of inherited metabolic disease, 19(5), 645-654. Springer Netherlands
Journal of Inherited Metabolic Disease, 19(5), 645-654. SPRINGER
Journal of Inherited Metabolic Disease, 19, pp. 645-654
Journal of inherited metabolic disease, 19(5), 645-654. Springer Netherlands
Journal of Inherited Metabolic Disease, 19(5), 645-654. SPRINGER
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria and associated with a variable clinical phenotype. In order to identify the molecular defect underlying complete DPD deficiency in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ed951602759fe47858248000143df9
https://doi.org/10.1007/bf01799841
https://doi.org/10.1007/bf01799841
Autor:
Ausems, M.G.E.M., Kroos, M.A., Kraan, M. van der, Smeitink, J.A.M., Kleijer, W.J., Ploos van Amstel, J.K., Reuser, A.J.J.
Publikováno v:
Clinical Genetics, 49, 325-328
Clinical Genetics, 49, pp. 325-328
Clinical Genetics, 49, 6, pp. 325-328
Clinical Genetics, 49, pp. 325-328
Clinical Genetics, 49, 6, pp. 325-328
Contains fulltext : 24033___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::725aebcaf03dac51d737992fa69946db
https://hdl.handle.net/2066/24033
https://hdl.handle.net/2066/24033
Autor:
Adrian C. Sewell, F. Poggi-Travert, J. S. Schlenzig, Yann Revillon, Daniel Rabier, Pierre Kamoun, Dominique Jan, J. M. Saudubray, J. Laurent, U.A.H. Wendel
Publikováno v:
Journal of Inherited Metabolic Disease, 18, 448-461
Journal of Inherited Metabolic Disease, 18, pp. 448-461
Journal of Inherited Metabolic Disease, 18, pp. 448-461
Orthotopic liver transplantation (OLT) was performed in two patients with propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagnosed with a severe neonatal form with high risk of metabolic decompensation. In both cases the metabolic liver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e095d49ec56c8f5324e83c1d277694
https://hdl.handle.net/2066/188489
https://hdl.handle.net/2066/188489
Autor:
Wevers, R.A., Engelke, U.F.H., Wendel, U.A.H., Jong, J.G.N. de, Gabreëls, F.J.M., Heerschap, A.
Publikováno v:
Clinical Chemistry, 41, 744-751
Clinical Chemistry, 41, 5, pp. 744-751
Clinical Chemistry, 41, 744-745
Clinical Chemistry, 41, pp. 744-745
Clinical Chemistry, 41, 5, pp. 744-751
Clinical Chemistry, 41, 744-745
Clinical Chemistry, 41, pp. 744-745
Contains fulltext : 21186___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::268738aa1b2afe3e649e424d53ba79e8
https://hdl.handle.net/2066/21185
https://hdl.handle.net/2066/21185
Publikováno v:
Nederlands Tijdschrift voor Fysiotherapie, 105, 164-167
Nederlands Tijdschrift voor Fysiotherapie, 6, 164-167
Nederlands Tijdschrift voor Fysiotherapie, 6, pp. 164-167
Nederlands Tijdschrift voor Fysiotherapie, 105, 6, pp. 164-167
Nederlands Tijdschrift voor Fysiotherapie, 6, 164-167
Nederlands Tijdschrift voor Fysiotherapie, 6, pp. 164-167
Nederlands Tijdschrift voor Fysiotherapie, 105, 6, pp. 164-167
Contains fulltext : 20666___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09d4bee2681f5c58fcea14ef4d8b430a
https://hdl.handle.net/2066/255887
https://hdl.handle.net/2066/255887
Publikováno v:
Human Genetics, 100, pp. 263-265
Human Genetics, 100, 2, pp. 263-265
Human Genetics, 100, 263-265
Human Genetics, 100, 263-265. Springer Verlag
Human genetics, 100(2), 263-265. Springer Verlag
Human Genetics, 100, 2, pp. 263-265
Human Genetics, 100, 263-265
Human Genetics, 100, 263-265. Springer Verlag
Human genetics, 100(2), 263-265. Springer Verlag
Dihydropyrimidine dehydrogenase catalyzes the first and rate-limiting step in the breakdown of thymine, uracil, and the widely used antineoplastic drug, 5-fluorouracil. Sequence analysis of the dihydropyrimidine dehydrogenase cDNA in a Dutch consangu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ddea516c26730f96044a938c0ab8938
https://hdl.handle.net/11245/1.137905
https://hdl.handle.net/11245/1.137905
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
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
http://hdl.handle.net/2066/25009
Publikováno v:
Tijdschrift voor Kindergeneeskunde, 65, 123-124
Tijdschrift voor Kindergeneeskunde, 65, pp. 123-124
Tijdschrift voor Kindergeneeskunde, 65, 3, pp. 123-124
Tijdschrift voor Kindergeneeskunde, 65, pp. 123-124
Tijdschrift voor Kindergeneeskunde, 65, 3, pp. 123-124
Contains fulltext : 25973___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2ae117aedd22b229074e51f05f6e2f4e
http://hdl.handle.net/2066/264894
http://hdl.handle.net/2066/264894
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
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
http://hdl.handle.net/2066/25652
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
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
Item does not contain fulltext 2 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf8ef416c92409e4a4dc944b8c58d95
http://hdl.handle.net/2066/275072
http://hdl.handle.net/2066/275072