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Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism
Disorders of intracellular cobalamin (vitamin B(12)) metabolism result from deficient synthesis of the coenzymes derived from vitamin B(12): adenosylcobalamin and methylcobalamin. Disturbances of cobalamin-cofactor synthesis result in elevated levels of homocysteine and/or methylmalonic acid. Nine d...
Guardat en:
| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4241196/ https://ncbi.nlm.nih.gov/pubmed/25155779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_340 |
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