Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with <it>PHEX </it>mutation type

• Principais autores: García-Miñaur Sixto (Autor), García-Sagredo José M (Autor), Soriano-Guillén Leandro (Autor), Fontalba Ana (Autor), Aleixandre Fernando (Autor), Vila-Cots Jaime (Autor), Martorell Loreto (Autor), Vilalta Ramón (Autor), Nieto José (Autor), Rica Itxaso (Autor), Ariceta Gema (Autor), Rey-Cordo Lourdes (Autor), Díaz-Grande José M (Autor), Bernabeu Ignacio (Autor), Gil Marta (Autor), Pombo Manuel (Autor), Cabanas Paloma (Autor), Barreiro Jesús (Autor), Castro-Feijóo Lidia (Autor), Morey Marcos (Autor), Rodríguez Berta (Autor), Juaristi Saioa (Autor), García-Pardos Carmen (Autor), Martínez-Peinado Antonio (Autor), Millán José M (Autor), Medeira Ana (Autor), Moldovan Oana (Autor), Fernandez Angeles (Autor), Loidi Lourdes (Autor)
• Formato: Livro
• Publicado em: BMC, 2011-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D₃(1,25(OH)₂D) serum levels...