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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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| Vydáno v: | J Inherit Metab Dis |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2011
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| 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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