Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

• Main Authors: Luciana Paim-Marques (Author), Amanda Virginia Cavalcante (Author), Islane Verçosa (Author), Paula Carneiro (Author), Marcia Souto-Maior (Author), Erlane Marques (Author), Simone Appenzeller (Author)
• Format: Book
• Published: BMC, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...