The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

Abstract Background X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20–25,000 individuals....

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Main Authors: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
X-linked hypophosphataemia (XLH)
Rare disease
Patient registry
Vitamin D
Disease history
Post-authorisation safety
Online Access:http://link.springer.com/article/10.1186/s13023-020-01434-4

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http://link.springer.com/article/10.1186/s13023-020-01434-4

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