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Article

A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Nov 2018

Hossain Mohammad Arif, Miyajima Takashi, Akiyama Keiko, Eto Yoshikatsu

Abstract excerpt

BACKGROUND: Pompe disease is an autosomal recessive glycogen storage disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase. The adult-onset form, late-onset Pompe disease, has been characterized by glycogen accumulation, primarily in skeletal and smooth muscles, causing weakness of the proximal limb girdle and respiratory compromises. CASE REPORT: A 59-year-old female was...

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Source

Identifiers

PMID: 30093193
DOI: 10.1016/j.jstrokecerebrovasdis.2018.06.043

Genes

GAA

Variants

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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