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Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease
Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth...
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| Auteurs principaux: | , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer Berlin Heidelberg
2012
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755569/ https://ncbi.nlm.nih.gov/pubmed/23430797 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_197 |
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