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Hydroxocobalamin dose escalation improves metabolic control in cblC

Cobalamin C (cblC), a combined form of methylmalonic acidaemia and hyperhomocysteinaemia, is recognized as the most frequent inborn error of intracellular cobalamin metabolism. This condition can be detected by expanded newborn screening and can have an acute neonatal presentation that is life-threa...

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Detalhes bibliográficos
Main Authors: Carrillo-Carrasco, N., Sloan, J., Valle, D., Hamosh, A., Venditti, C. P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3479241/
https://ncbi.nlm.nih.gov/pubmed/19821145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-009-1257-y
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