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Title: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Filiation: Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Issue Date: 27-Feb-2021
Citation: Orphanet J Rare Dis.2021 02;(16)1:104
Abstract: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH.
PMID: 33639975
Rights: info:eu-repo/semantics/openAccess
Appears in Collections:Hospitales > H. Infantil U. Niño Jesús > Artículos

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