Joint manifestations revealing inborn metabolic diseases in adults: a narrative review

Abstract Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the j...

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Bibliographic Details
Main Authors: Amaury Loret, Claire Jacob, Saloua Mammou, Adrien Bigot, Hélène Blasco, Alexandra Audemard-Verger, Ida VD Schwartz, Denis Mulleman, François Maillot
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-023-02810-6