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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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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2009
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| Schlagworte: | |
| Online Zugang: | 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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