Zobrazeno 1 - 3
of 3
pro vyhledávání: '"George D. Maropoulos"'
Autor:
George D. Maropoulos, Shinjiro Akaboshi, Boris M. Hogema, Gajja S. Salomons, Patrizia Malaspina, Andrea Novelletto, K. Michael Gibson, Cornelis Jakobs, Markus Grompe
Publikováno v:
Human Mutation, 22, 442-450. Wiley-Liss Inc.
Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81798c7c2b489ef9c7f3a7571c0bfdc
https://doi.org/10.1002/humu.10288
https://doi.org/10.1002/humu.10288
Autor:
Hermann Kalhoff, Guido Hein, Janet Haasjes, John A. Duley, Rutger Meinsma, George D Maropoulos, Holger Baaske, Doreen Dobritzsch, Hans R. Waterham, Ylva Lindqvist, Anne Aukett, Małgorzata J.M. Nowaczyk, Jean M Kirk, André B.P. van Kuilenburg, Albert H. van Gennip, Kate P Ward
Publikováno v:
Biochemical journal, 364(Part 1), 157-163. Portland Press Ltd.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria in homozygous deficient patients. Cancer patients with a partial deficiency of DPD are at risk of developing severe life-threatenin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4a4364f8a4e5e3786e635da249355a8
https://doi.org/10.1042/bj3640157
https://doi.org/10.1042/bj3640157
Autor:
Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto, Patrizia Malaspina, Gajja S. Salomons, George D. Maropoulos, Cornelis Jakobs, Markus Grompe, K. Michael Gibson
Publikováno v:
Human Mutation; Dec2003, Vol. 22 Issue 6, p442-450, 9p