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Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect
CblD disorder is an autosomal recessive, rare, heterogeneous disease with variable clinical presentations, depending on the nature and location of the MMADHC gene mutations. Mutations in MMADHC lead to three distinct phenotypes: cblD-MMA, cblD-HC, and cblD-MMA/HC. To date, 18 cblD patients have been...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755553/ https://ncbi.nlm.nih.gov/pubmed/23686626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_232 |
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