Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program

Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program

X-linked hypophosphatemia (XLH) is a rare, genetic, progressive, lifelong disorder caused by pathogenic variants in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in excess fibroblast growth factor 23 (FGF23) and consequent renal phosphate wasting. Chronic hypophosph...

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Bibliographic Details
Main Authors: Maria Luisa Brandi, Thomas O. Carpenter, Seiji Fukumoto, Dieter Haffner, Erik A. Imel, Masanori Kanematsu, Keith P. McCullough, Keiichi Ozono
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Endocrinology
Subjects:
X-linked hypophosphatemia (XLH)
phosphate-regulating endopeptidase homologX-linked (PHEX) gene
fibroblast growth factor 23 (FGF23)
musculoskeletal
rickets
osteomalacia
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1471127/full
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