Genetic disorders of vitamin B12metabolism: eight complementation groups – eight genes
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چکیده
منابع مشابه
Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes
Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through s...
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ژورنال
عنوان ژورنال: Expert Reviews in Molecular Medicine
سال: 2010
ISSN: 1462-3994
DOI: 10.1017/s1462399410001651