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Article

[Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2011

Zeng Min-hui, Qiu Wen-juan, Gu Xue-fan, Wang Yu, Zhou Jian-de, Ye Jun, Han Lian-shu, Zhang Hui-wen

Abstract excerpt

OBJECTIVE: To carry out prenatal diagnosis for a glycogen storage disease type II (GSD II ) affected family. METHODS: The acid-α -glucosidase (GAA) activity was measured in whole leukocytes and cultured amniocytes with 4-methylumbelliferyl-α -D-glucopyranoside as substrate and with acarbose as inhibitor. The coding regions of GAA gene were amplified by polymerase chain reaction and analyzed by direct DNA...

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Source

Identifiers

PMID: 21644219
DOI: 10.3760/cma.j.issn.1003-9406.2011.03.005

Genes

GAA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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