The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

Abstract Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic diseas...

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Bibliographic Details
Main Authors: Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
X-linked hypophosphatemia (XLH)
Hypophosphatemic rickets
Rare disease
International
Natural history
Osteomalacia
Online Access:https://doi.org/10.1186/s13023-023-02882-4

Internet

https://doi.org/10.1186/s13023-023-02882-4

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