3例糖原贮积症Ⅱ型患儿的临床特点及GAA基因突变分析
Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II:an analysis of 3 cases

DOI: 10.7499/j.issn.1008-8830.2017.10.012

Keywords: 糖原贮积症II型,酸性α-葡萄糖苷酶,基因突变,儿童,
Glycogen storage disease type II,Acid-alpha-glucosidase,Gene mutation,Child

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