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Genetic disorders of vitamin B(12) metabolism: eight complementation groups – eight genes
Vitamin B(12) (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B(12) utilisation constitute an important fraction of inherited newborn disease. Functionally, B(12) is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofacto...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Cambridge University Press
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995210/ https://www.ncbi.nlm.nih.gov/pubmed/21114891 http://dx.doi.org/10.1017/S1462399410001651 |