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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...
Sparad:
| Huvudupphovsmän: | , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Pacini Editore SpA
2007
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2949324/ https://ncbi.nlm.nih.gov/pubmed/17915575 |
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