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Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria

✍ Scribed by Leah R. Fuchs; Matthieu Robert; Isabelle Ingster-Moati; Lucia Couette; Jean-Louis Dufier; Pascale de Lonlay; Scott E. Brodie

Book ID
119263494
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
802 KB
Volume
16
Category
Article
ISSN
1528-3933

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Genetic and cellular studies of oxidativ
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
✍ 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