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[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2015

Zhang Lei, Xu Xiao-Heng, Wang Ji, Zhang Si-Jin

Abstract excerpt

The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. The coding region of GAA gene in this pedigree was amplified by polymerase chain reaction and then direct sequencing was used to...

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PMID: 26575883

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GAA

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