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[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2015

Ding Juan, Huang Yu, Yang Haipo, Zhang Qingyou, Hou Xinlin, Liu Xueqin, Yang Yanling, Xiong Hui

Abstract excerpt

OBJECTIVE: To summarize clinical features and diagnosis of Chinese infantile patients with glycogen storage disease type II (GSD II). METHOD: Six infant patients with GSD II diagnosed from January 2012 to June 2014 in the Department of Pediatrics, Peking University First Hospital were enrolled into this study. Clinical information of the 6 patients, including clinical manifestation, blood biochemistry, chest...

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alpha-Glucosidases
Asian People
Glycogen Storage Disease Type II
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Weakness

Mutation, Missense

Polymerase Chain Reaction

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PMID: 26310554

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GAA

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