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Article

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

Neurology - 19 Feb 2008

Nascimbeni Anna Chiara, Fanin Marina, Tasca Elisabetta, Angelini Corrado

Abstract excerpt

OBJECTIVES: To examine at molecular, biochemical, and muscle pathology level the striking clinical heterogeneity resulting from acid alpha-glucosidase deficiency. METHODS: We investigated 23 patients with infantile-onset or late-onset glycogen storage disease type II by enzyme activity, protein expression by immunoblotting, GAA gene mutations, and muscle pathology including immunolabeling for Golgi and...

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PMID: 18285536
DOI: 10.1212/01.wnl.0000299892.81127.8e

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GAA

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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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