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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, adenosyl-cob...
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| Publicat a: | BMC Med Genet |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6042273/ https://ncbi.nlm.nih.gov/pubmed/29996803 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0635-4 |
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