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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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Lin, Yiming, Lin, Chunmei, Lin, Weihua, Zheng, Zhenzhu, Han, Mingya, Fu, Qingliu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Research Article
Online Erişim: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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