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Article

Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

Muscle & nerve. Supplement - 1 Jan 1995

Raben N, Nichols R C, Boerkoel C, Plotz P

Abstract excerpt

Inherited deficiency of acid alpha-glucosidase (acid maltase, GAA) leads to glycogen storage disease type II. Clinical manifestations and prognosis of the disease depend on the age of onset and tissue involvement. GAA deficiency is extremely heterogeneous, ranging from a rapidly progressive fatal infantile-onset form to a slowly progressive adult-onset myopathy associated with respiratory insufficiency....

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Source

Identifiers

PMID: 7603531
DOI: 10.1002/mus.880181415

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.

Related research

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Genetic defects in patients with glycogenosis type II (acid maltase deficiency).PMID 7603531Read ↗

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Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.Semantic proximity Read ↗

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).Semantic proximity Read ↗

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.Semantic proximity Read ↗

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.Semantic proximity Read ↗

Novel autophagic vacuolar myopathies: Phenotype and genotype features.Semantic proximity Read ↗

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.Semantic proximity Read ↗

[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].Semantic proximity Read ↗

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.Semantic proximity Read ↗

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).Semantic proximity Read ↗

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