Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

BACKGROUND: Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including i...

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Detalles Bibliográficos
Autores principales: Paim-Marques, Luciana, Cavalcante, Amanda Virginia, Verçosa, Islane, Carneiro, Paula, Souto-Maior, Marcia, Marques, Erlane, Appenzeller, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8199813/
https://www.ncbi.nlm.nih.gov/pubmed/34118938
http://dx.doi.org/10.1186/s12969-021-00563-9

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