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Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4484904/ https://ncbi.nlm.nih.gov/pubmed/25772322 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_429 |
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