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Article

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Molecular genetics and metabolism - 1 Mar 2017

Chan Justin, Desai Ankit K, Kazi Zoheb B, Corey Kaitlyn, Austin Stephanie, Hobson-Webb Lisa D, Case Laura E, Jones Harrison N, Kishnani Priya S

Abstract excerpt

BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of...

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Source

Identifiers

PMID: 28185884
DOI: 10.1016/j.ymgme.2016.12.004

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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