Article

Frequency of Fabry disease in a Juvenile Idiopathic Arthritis Cohort

2021-01-22

Abstract excerpt

<title>Abstract</title> <p><bold><italic>Background</italic></bold>: 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 in the musculoskeletal system. The prevalence of FD among ju...

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Literature Corpus work: 335023f7-8b53-5763-b68d-243accee95c0
DOI: 10.21203/rs.3.rs-60936/v3

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