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Long-term Visual Outcome of Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type

✍ Scribed by Gizicki, Robert; Robert, Marie-Claude; Gómez-López, Lilianne; Orquin, Jaqueline; Decarie, Jean-Claude; Mitchell, Grant A.; Roy, Marie-Sylvie; Ospina, Luis H.

Book ID
122421939
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
567 KB
Volume
121
Category
Article
ISSN
0161-6420

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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; Begoña Merinero; Lourdes 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 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