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Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease
Pompe disease (OMIM 232300), a glycogen storage disorder caused by deficiency in the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.20), results in weakness and cardiomyopathy in infants affected with the classic form. Although the primary disease manifestations are due to glycogen accumulation i...
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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4484900/ https://ncbi.nlm.nih.gov/pubmed/25763511 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_426 |
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