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Article

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

Journal of inherited metabolic disease - 1 Dec 2008

Hamdan M A, Almalik M H, Mirghani H M

Abstract excerpt

Pompe disease (glycogen storage disease II, OMIM # 232300), is a hereditary lysosomal disorder. It is characterized by deficiency of acid alpha-glucosidase enzyme (acid maltase, GAA, OMIM *606800, EC 3.1.26.2), secondary to mutations in the GAA gene (HGNC:4065) on chromosome 17q25.2-q25.3. Absent enzyme activity in the infantile form of Pompe disease results in abnormal glycogen deposition in the skeletal,...

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Source

Identifiers

PMID: 19067231
DOI: 10.1007/s10545-008-1000-0

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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