Buchumschlag

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

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 manifes...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Herzog, Andreas (VerfasserIn) , Runz, Heiko (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 7 June 2012
In: Orphanet journal of rare diseases
Year: 2012, Jahrgang: 7
ISSN:1750-1172
DOI:10.1186/1750-1172-7-35
Online-Zugang:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/1750-1172-7-35
Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-7-35
Volltext
Verfasserangaben: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
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 12.06.2018
Beschreibung:Online Resource
ISSN:1750-1172
DOI:10.1186/1750-1172-7-35

Ähnliche Einträge