Am J Med Genet A 2017 Oct 1;173(10):2628-2634. Epub 2017 Aug 1.
Duke University Medical Center, Durham, North Carolina.
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Orphanet J Rare Dis 2012 Jun 7;7:35. Epub 2012 Jun 7.
Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany.
Background: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of acid alpha-glucosidase (GAA, acid maltase, EC 3.2.1. Read More
J Neurol 2009 Nov 9;256(11):1881-90. Epub 2009 Jul 9.
Myopathies and Molecular Biology Group, Department of Neurology, School of Medicine, University of São Paulo, Av Dr Arnaldo, 455, 4th Floor, Room 4110, São Paulo, SP 01246-903, Brazil.
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or late-onset (20 cases) disease by muscle pathology, enzyme activity and GAA gene mutation screening. Read More
Mol Genet Metab 2007 Dec 27;92(4):325-35. Epub 2007 Aug 27.
Children's Hospital of Eastern Ontario, Canada K1H 8L1.
Glycogen storage disease, type II (GSDII; Pompe disease; acid maltase deficiency) is an autosomal recessive disease caused by mutations of the GAA gene that lead to deficient acid alpha-glucosidase enzyme activity and accumulation of lysosomal glycogen. Although measurement of acid alpha-glucosidase enzyme activity in fibroblasts remains the gold standard for the diagnosis of GSDII, analysis of the GAA gene allows confirmation of clinical or biochemical diagnoses and permits predictive and prenatal testing of individuals at risk of developing GSDII. We have developed a clinical molecular test for the detection of GAA mutations based on cycle sequencing of the complete coding region. Read More
Neurology 2007 Jan;68(2):110-5
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
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 the classic infantile subtype. Read More