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Article

New GAA mutations in Japanese patients with GSDII (Pompe disease).

Pediatric neurology - 1 Oct 2003

Pipo Judy R, Feng Jian-Hua, Yamamoto Toshiyuki, Ohsaki Yuki, Nanba Eiji, Tsujino Seiichi, Sakuragawa Norio, Martiniuk Frank, Ninomiya Haruaki, Oka Akira, Ohno Kousaku

Abstract excerpt

Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. The GAA gene, responsible for this disease, has been mapped to chromosome 17q25.2-25.3. To date, more than 70 disease-causing mutations have been identified. In this study, we present...

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Source

Identifiers

PMID: 14643388
DOI: 10.1016/s0887-8994(03)00267-4

Genes

GAA

Provenance

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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