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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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| Publicat a: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
中国当代儿科杂志编辑部
2017
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| Matèries: | |
| Accés en línia: | 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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