Article
Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Oct 2021
Salcion Axelle, Herrou Julia, Briot Karine
Abstract excerpt
X-linked hypophosphatemia (XLH) is a rare genetic phosphate disorder caused mainly by PHEX mutations. Unlike for children, knowledge of the disease's manifestations in adults is limited. Musculoskeletal symptoms are the main feature of the disease in young adults associated with a heavy burden on patients' life. They include fractures and pseudofractures, pain, joint stiffness, osteoarthritis, enthesopathies, and...
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