Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients

Fabry’s disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagn...

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Detalles Bibliográficos
Autores principales: Gonçalves, Maria J., Mourão, Ana F., Martinho, António, Simões, Olívia, Melo-Gomes, José, Salgado, Manuel, Estanqueiro, Paula, Ribeiro, Célia, Brito, Iva, Fonseca, João E., Canhão, Helena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331034/
https://www.ncbi.nlm.nih.gov/pubmed/28299312
http://dx.doi.org/10.3389/fmed.2017.00012

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