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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...
Gorde:
| Argitaratua izan da: | JIMD Rep |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2014
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| Gaiak: | |
| Sarrera elektronikoa: | 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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