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Article

Management of X-linked hypophosphatemia in adults.

Metabolism: clinical and experimental - 1 Feb 2020

Lecoq Anne-Lise, Brandi Maria Luisa, Linglart Agnès, Kamenický Peter

Abstract excerpt

X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene which result in Fibroblast Growth Factor-23 (FG-F23) excess and phosphate wasting. Clinically, XLH children present with rickets, bone deformities and short stature. In adulthood, patients may still be symptomatic with bone and joint pain, osteomalacia-related fractures or pseudofractures, precocious osteoarthrosis, enthesopathy, muscle...

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Identifiers

PMID: 31863781
DOI: 10.1016/j.metabol.2019.154049

Provenance

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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