Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Abstract 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, inc...

Full description

Bibliographic Details
Main Authors: Luciana Paim-Marques, Amanda Virginia Cavalcante, Islane Verçosa, Paula Carneiro, Marcia Souto-Maior, Erlane Marques, Simone Appenzeller
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Fabry disease
Juvenile arthritis
Chronic arthritis
Alpha-galactosidase a
GLA variants
Online Access:https://doi.org/10.1186/s12969-021-00563-9

Internet

https://doi.org/10.1186/s12969-021-00563-9

Similar Items