婴儿型糖原累积病Ⅱ型一家系的临床和基因突变分析
Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II

DOI: 10.7499/j.issn.1008-8830.2015.11.015

Keywords: Ⅱ型糖原累积病,酸性α葡萄糖苷酶,基因突变,
Glycogen storage disease type II,Acid alpha-D-glucosidase,Gene mutation

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