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Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene

✍ Scribed by Jenn-Tzong Chang; Ying-Yao Chen; Tze-Tze Liu; Mei-Ying Liu; Pao-Chin Chiu


Book ID
119344863
Publisher
Elsevier
Year
2011
Tongue
English
Weight
262 KB
Volume
52
Category
Article
ISSN
1875-9572

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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