Browsing Artículos by Author "Gil Peña, Helena"

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      Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population 

      Rodríguez Rubio, Enrique; Gil Peña, Helena; Chocron, Sara; Madariaga Domínguez, Leire ORCID; De la Cerda Ojeda, Francisco; Fernández Fernández, Marta; De Lucas Collantes, Carmen; Gil, Marta; Luis Yanes, María Isabel; Vergara, Inés; González Rodríguez, Juan David; Ferrando, Susana; Antón Gamero, Montserrat; Carrasco Hidalgo-Barquero, Marta; Fernández Escribano, Angustias; Fernández Maseda, Mª Ángeles; Espinosa, Laura; Oliet, Aniana; Vicente, Antonio; Ariceta, Gema; Santos, Fernando (BMC, 2021-02-27)
      BACKGROUND: 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 ...