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of 4
pro vyhledávání: '"Herma, Vuil"'
Autor:
Cornelis L. Harteveld, Jan Kouwenberg, Piero C. Giordano, Judith O. Kaufmann, Arthur J. Verhoeven, Kea Fogelberg, Rob van Zwieten, Herma Vuil
Publikováno v:
Hemoglobin. 33:188-195
We describe a novel hemoglobin (Hb) variant, caused by a CCC > TCC transition at codon 77 on the alpha gene. The mutation was found in two unrelated patients, in one patient on the alpha1 gene and in the other patient on the alpha2 gene. Both are ane
Autor:
Rob, van Zwieten, Judith O, Kaufmann, Herma, Vuil, Jan, Kouwenberg, Arthur J, Verhoeven, Kea, Fogelberg, Cornelis L, Harteveld, Piero C, Giordano
Publikováno v:
Hemoglobin. 33(3)
We describe a novel hemoglobin (Hb) variant, caused by a CCCTCC transition at codon 77 on the alpha gene. The mutation was found in two unrelated patients, in one patient on the alpha1 gene and in the other patient on the alpha2 gene. Both are anemic
Autor:
Martin de Boer, Nanne Kamerbeek, Carsten Lincke, Dirk Roos, Katja Becker, Gert Morren, Rob van Zwieten, Herma Vuil, Natalja Bannink, Koert M. Dolman, Stephan Gromer, R. Heiner Schirmer
Publikováno v:
Blood, 109(8), 3560-3566. American Society of Hematology
Hereditary glutathione reductase (GR) deficiency was found in only 2 cases when testing more than 15 000 blood samples. We have investigated the blood cells of 2 patients (1a and 1b) in a previously described family suffering from favism and cataract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e876f025abcee08cbc16274f74de9f25
https://pure.amc.nl/en/publications/molecular-basis-of-glutathione-reductase-deficiency-in-human-blood-cells(24836f2b-38bc-4987-a4c4-2e649f26dbf2).html
https://pure.amc.nl/en/publications/molecular-basis-of-glutathione-reductase-deficiency-in-human-blood-cells(24836f2b-38bc-4987-a4c4-2e649f26dbf2).html
Autor:
Snjezana, Rothkrantz-Kos, Marjolein, Drent, Herma, Vuil, Martin, De Boer, Aalt, Bast, Emiel F M, Wouters, Dirk, Roos, Marja P, van Dieijen-Visser
Publikováno v:
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG. 19(2)
The glutathione system has a key role in the defence against oxidative stress. To function properly, this system needs NADPH to maintain glutathione (GSH) in its reduced form. We hypothesized that the clinical problems associated with sarcoidosis mig