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Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
OBJECTIVES: The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. SETTING AND PARTICIPANTS: In this monocentric study, all parti...
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| Publicado no: | BMJ Open |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4838741/ https://ncbi.nlm.nih.gov/pubmed/27059467 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-010422 |
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