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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

✍ Scribed by Liu, Mei-Ying; Yang, Yan-Ling; Chang, Ying-Chen; Chiang, Szu-Hui; Lin, Shuan-Pei; Han, Lian-Shu; Qi, Yu; Hsiao, Kwang-Jen; Liu, Tze-Tze


Book ID
123614726
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
313 KB
Volume
55
Category
Article
ISSN
1435-232X

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Genetic and cellular studies of oxidativ
✍ Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; BegoΓ±a Merinero; Lourdes πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 254 KB

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