3例糖原贮积症Ⅱ型患儿的临床特点及GAA基因突变分析

Glycogen storage disease type Ⅱ (GSD Ⅱ) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children wit...

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Bibliografiske detaljer
Udgivet i:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Sprog:Inglês
Udgivet: 中国当代儿科杂志编辑部 2017
Fag:
论著·临床研究
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389288/
https://ncbi.nlm.nih.gov/pubmed/29046207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.10.012
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