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Article

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.

American journal of human genetics - 1 Jul 1990

Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R

Abstract excerpt

Acid maltase, or acid alpha glucosidase (GAA), is a lysosomal enzyme that hydrolyzes glycogen to glucose and is deficient in glycogen storage disease type II. We have previously isolated a partial cDNA (1.9 kb) for human GAA and detected abnormalities of mRNA in two infantile-onset and one adult-onset patient. We have now extended this study and examined mRNA and DNA from cell lines of eight additional infantile...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 2112341
PMCID: PMC1683757

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.PMID 2112341Read ↗

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 ↗

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

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.Semantic proximity Read ↗

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.Semantic proximity Read ↗

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

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.Semantic proximity Read ↗

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.Semantic proximity Read ↗

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).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 ↗

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.Semantic proximity Read ↗

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.Semantic proximity Read ↗

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.Semantic proximity Read ↗

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