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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Autors principals: Tanpaiboon, Pranoot, Sloan, Jennifer L., Callahan, Patrick F., McAreavey, Dorothea, Hart, P. Suzanne, Lichter-Konecki, Uta, Zand, Dina, Venditti, Charles P.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2012
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Article
Accés en línia: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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