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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. This metabolic disease is caused by mutations in th...

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Podrobná bibliografie
Vydáno v:J Inherit Metab Dis
Hlavní autoři: Carrillo-Carrasco, Nuria, Chandler, Randy J., Venditti, Charles P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4219318/
https://ncbi.nlm.nih.gov/pubmed/21748409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9364-y
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