A cross-sectional single-centre study on the spectrum of Pompe disease, German patients

• Verfasst von: Herzog, Andreas [VerfasserIn]
• Verfasst von: Runz, Heiko [VerfasserIn]
• Titel: A cross-sectional single-centre study on the spectrum of Pompe disease, German patients
• Titelzusatz: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
• Verf.angabe: Andreas Herzog, Ralf Hartung, Arnold J.J. Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck and Eugen Mengel
• Fussnoten: Gesehen am 12.06.2018
• Titel Quelle: Enthalten in: Orphanet journal of rare diseases
• Jahr Quelle: 2012
• Band/Heft Quelle: 7(2012), Artikelnummer 35, 14 Seiten
• ISSN Quelle: 1750-1172
• DOI: doi:10.1186/1750-1172-7-35
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1576284557

Abstract

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 addition, the classic infantile form is characterised by hypertrophic cardiomyopathy.