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Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline t...
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| Udgivet i: | Orphanet J Rare Dis |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6322341/ https://ncbi.nlm.nih.gov/pubmed/30616652 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0979-z |
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