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Article

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Neurology - 9 Jan 2007

Kroos M A, Pomponio R J, Hagemans M L, Keulemans J L M, Phipps M, DeRiso M, Palmer R E, Ausems M G E M, Van der Beek N A M E, Van Diggelen O P, Halley D J J, Van der Ploeg A T, Reuser A J J

Abstract excerpt

BACKGROUND: Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by acid alpha-glucosidase deficiency due to mutations in the GAA gene. Progressive skeletal muscle weakness affects motor and respiratory functions and is typical for all forms of Pompe disease. Cardiac hypertrophy is an additional fatal symptom in...

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Source

Identifiers

PMID: 17210890
DOI: 10.1212/01.wnl.0000252798.25690.76

Genes

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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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.PMID 17210890Read ↗

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A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).Semantic proximity Read ↗

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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.Semantic proximity Read ↗

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.Semantic proximity Read ↗

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