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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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Библиографические подробности
Главные авторы: Carrillo-Carrasco, N., Sloan, J., Valle, D., Hamosh, A., Venditti, C. P.
Формат: Artigo
Язык:Inglês
Опубликовано: 2009
Предметы:
Online-ссылка: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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