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Article

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype.

Journal of inherited metabolic disease - 1 Sept 2013

van den Berg L E M, Drost M R, Schaart G, de Laat J, van Doorn P A, van der Ploeg A T, Reuser A J J

Abstract excerpt

Pompe disease is a lysosomal storage disorder caused by acid α-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients' perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment b...

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Source

Identifiers

PMID: 23053471
DOI: 10.1007/s10545-012-9541-7

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23053471-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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