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Article

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.

Journal of inherited metabolic disease - 1 Dec 2010

Del Rizzo Monica, Fanin Marina, Cerutti Alessia, Cazzorla Chiara, Milanesi Ornella, Nascimbeni Anna Chiara, Angelini Corrado, Giordano Laura, Bordugo Andrea, Burlina Alberto B

Abstract excerpt

Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile-onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving patients with infantile-onset PD have shown that enzyme...

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Identifiers

PMID: 20830524
DOI: 10.1007/s10545-010-9195-2

Genes

GAA

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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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