Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorpt...
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25
About this item
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Author / Creator
Morey, Marcos , Castro-Feijóo, Lidia , Barreiro, Jesús , Cabanas, Paloma , Pombo, Manuel , Gil, Marta , Bernabeu, Ignacio , Díaz-Grande, José M , Rey-Cordo, Lourdes , Ariceta, Gema , Rica, Itxaso , Nieto, José , Vilalta, Ramón , Martorell, Loreto , Vila-Cots, Jaime , Aleixandre, Fernando , Fontalba, Ana , Soriano-Guillén, Leandro , García-Sagredo, José M , García-Miñaur, Sixto , Rodríguez, Berta , Juaristi, Saioa , García-Pardos, Carmen , Martínez-Peinado, Antonio , Millán, José M , Medeira, Ana , Moldovan, Oana , Fernandez, Angeles and Loidi, Lourdes
Publisher
BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D.sub.3 (1,25(OH).sub.2 D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to...
Alternative Titles
Full title
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25
Authors, Artists and Contributors
Author / Creator
Castro-Feijóo, Lidia
Barreiro, Jesús
Cabanas, Paloma
Pombo, Manuel
Gil, Marta
Bernabeu, Ignacio
Díaz-Grande, José M
Rey-Cordo, Lourdes
Ariceta, Gema
Rica, Itxaso
Nieto, José
Vilalta, Ramón
Martorell, Loreto
Vila-Cots, Jaime
Aleixandre, Fernando
Fontalba, Ana
Soriano-Guillén, Leandro
García-Sagredo, José M
García-Miñaur, Sixto
Rodríguez, Berta
Juaristi, Saioa
García-Pardos, Carmen
Martínez-Peinado, Antonio
Millán, José M
Medeira, Ana
Moldovan, Oana
Fernandez, Angeles
Loidi, Lourdes
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_incontextgauss_ISR_A268987746
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_incontextgauss_ISR_A268987746
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/1471-2350-12-116
