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The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients
Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and...
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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6122052/ https://ncbi.nlm.nih.gov/pubmed/29380258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_84 |
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