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

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. Excess F...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta, Gema, Schnabel, Dirk, Brandi, Maria Luisa, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi, Mughal, Zulf
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7329472/
https://ncbi.nlm.nih.gov/pubmed/32605590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01434-4
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