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Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations i...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Nat Commun |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5653652/ https://ncbi.nlm.nih.gov/pubmed/29061980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-01263-3 |
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