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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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Bibliographic Details
Main Authors: Carrillo-Carrasco, N., Sloan, J., Valle, D., Hamosh, A., Venditti, C. P.
Format: Artigo
Language:Inglês
Published: 2009
Subjects:
Online Access: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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