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

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). Clin...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
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Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3479421/
https://ncbi.nlm.nih.gov/pubmed/22676651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-35
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