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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

✍ Scribed by Christina Gerth; Chantal F. Morel; Annette Feigenbaum; Alex V. Levin


Book ID
116590271
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
743 KB
Volume
12
Category
Article
ISSN
1528-3933

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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