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...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
7 June 2012
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| In: |
Orphanet journal of rare diseases
Year: 2012, Volume: 7 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-7-35 |
| Online Access: | 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 
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| Author Notes: | 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 |
| Summary: | 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. |
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| Item Description: | Gesehen am 12.06.2018 |
| Physical Description: | Online Resource |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-7-35 |