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Article

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.

Pediatric rheumatology online journal - 12 Jun 2021

Paim-Marques Luciana, Cavalcante Amanda Virginia, Verçosa Islane, Carneiro Paula, Souto-Maior Marcia, Marques Erlane, Appenzeller Simone

Abstract excerpt

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 in the musculoskeletal system. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients is unknown....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34118938
DOI: 10.1186/s12969-021-00563-9
PMCID: PMC8199813

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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