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Article

Pompe disease: literature review and case series.

Neurologic clinics - 1 Aug 2014

Dasouki Majed, Jawdat Omar, Almadhoun Osama, Pasnoor Mamatha, McVey April L, Abuzinadah Ahmad, Herbelin Laura, Barohn Richard J, Dimachkie Mazen M

Abstract excerpt

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the...

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Source

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Identifiers

PMID: 25037089
DOI: 10.1016/j.ncl.2014.04.010
PMCID: PMC4311397

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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