Zobrazeno 1 - 10 of 70 pro vyhledávání: '"Víctor García-Nieto"'
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Akademický článek
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Autor: Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, Africa Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group
Publikováno v: PLoS ONE, Vol 8, Iss 1, p e53151 (2013)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the C
Externí odkaz: https://doaj.org/article/2c3ebfb9b36c483bb8d72f29164232c0
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5
La gota asociada a reducción de la excreción renal de ácido úrico. Esa tubulopatía que no tratamos los nefrólogos
Autor: Felix Claverie-Martin, Elizabeth Córdoba-Lanús, Patricia Tejera-Carreño, Teresa Moraleda-Mesa, en representación del Grupo RenalTube, María Isabel Luis-Yanes, Elena Ramos-Trujillo, Ana Perdomo-Ramirez, Víctor García-Nieto
Publikováno v: Nefrología. 42:273-279
Gout is recurrent inflammatory arthritis caused by the deposition of monosodium urate crystals in the joints. The risk factors that predispose to suffering from gout include non-modifiable factors such as gender, age, ethnicity and genetics, and modi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f41d4172fd712723ae0ddf31e28e959a
https://doi.org/10.1016/j.nefro.2021.03.013
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6
Akademický článek
High altitude impact on serum bicarbonate in healthy Mexican children: concerning the overdiagnosis of renal tubular acidosis
Autor: Francisco H. Negrete-Pedraza, Víctor Garcia-Nieto, Carlos A. Castro-Fuentes, Omar E. Valencia-Ledezma
Publikováno v: BMC Nephrology, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Altitude influences bicarbonate levels, it is a variable that is hardly considered in diagnosing Renal Tubular Acidosis (RTA), so it should be a factor to consider when diagnosing this pathology, especially at 2250 mts over the se
Externí odkaz: https://doaj.org/article/670db1e24dc14d88b97fae40c18091c3
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7
Akademický článek
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
Autor: Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group, Gema Ariceta
Publikováno v: PLoS ONE, Vol 12, Iss 3, p e0173581 (2017)
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic c
Externí odkaz: https://doaj.org/article/dc0787dd88464a0599e86f65e6e64df2
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