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Molecular genetics of late onset glycogen storage disease II in Italy

Glycogen Storage Disease Type II (GSDII) is a recessively inherited disorder due to the deficiency of acid α-glucosidase (GAA) that results in glycogen accumulation in the lysosomes. The molecular analysis of the GAA gene was performed on 45 Italian patients with late onset GSDII. DHPLC analysis rev...

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Bibliografiska uppgifter
Huvudupphovsmän: Pittis, MG, Filocamo, M
Materialtyp: Artigo
Språk:Inglês
Publicerad: Pacini Editore SpA 2007
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2949324/
https://ncbi.nlm.nih.gov/pubmed/17915575
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