Article
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Orphanet journal of rare diseases - 7 Jun 2012
Herzog Andreas, Hartung Ralf, Reuser Arnold J J, Hermanns Pia, Runz Heiko, Karabul Nesrin, Gökce Seyfullah, Pohlenz Joachim, Kampmann Christoph, Lampe Christina, Beck Michael, Mengel Eugen
Abstract excerpt
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 3.2.1.20, Swiss-Prot P10253). Clinical manifestations are dominated by progressive weakness of skeletal muscle throughout the clinical spectrum. In...
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