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Glutathione metabolism in cobalamin deficiency type C (cblC)

โœ Scribed by Pastore, Anna; Martinelli, Diego; Piemonte, Fiorella; Tozzi, Giulia; Boenzi, Sara; Giovamberardino, Gianna; Petrillo, Sara; Bertini, Enrico; Dionisi-Vici, Carlo

Book ID
121709552
Publisher
Springer
Year
2013
Tongue
English
Weight
405 KB
Volume
37
Category
Article
ISSN
0141-8955

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Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B 12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative