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

• প্রধান লেখক: García-Miñaur Sixto (লেখক), García-Sagredo José M (লেখক), Soriano-Guillén Leandro (লেখক), Fontalba Ana (লেখক), Aleixandre Fernando (লেখক), Vila-Cots Jaime (লেখক), Martorell Loreto (লেখক), Vilalta Ramón (লেখক), Nieto José (লেখক), Rica Itxaso (লেখক), Ariceta Gema (লেখক), Rey-Cordo Lourdes (লেখক), Díaz-Grande José M (লেখক), Bernabeu Ignacio (লেখক), Gil Marta (লেখক), Pombo Manuel (লেখক), Cabanas Paloma (লেখক), Barreiro Jesús (লেখক), Castro-Feijóo Lidia (লেখক), Morey Marcos (লেখক), Rodríguez Berta (লেখক), Juaristi Saioa (লেখক), García-Pardos Carmen (লেখক), Martínez-Peinado Antonio (লেখক), Millán José M (লেখক), Medeira Ana (লেখক), Moldovan Oana (লেখক), Fernandez Angeles (লেখক), Loidi Lourdes (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2011-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...