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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:JIMD Rep
Päätekijät: Ivleva, Alexandra, Weith, Ekaterina, Mehta, Atul, Hughes, Derralynn A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Berlin Heidelberg 2018
Aiheet:
Linkit: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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