Zobrazeno 1 - 10
of 460
pro vyhledávání: '"Rosa Vargas"'
Autor:
Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Joost G. J. Hoenderop
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype–phenotype relationship in affected individuals with CNN
Externí odkaz:
https://doaj.org/article/5f5146f8f8c742b290ce015d63777a81
Autor:
Norma E. Guerra Hernández, Circe Gómez Tenorio, Laura Paloma Méndez Silva, Teresa Moraleda Mesa, Laura I. Escobar, Carolina Salvador, Rosa Vargas Poussou, Víctor M. García Nieto
Publikováno v:
Nefrología (English Edition), Vol 43, Iss 4, Pp 484-490 (2023)
Primary distal renal tubular acidosis (dRTA) is a rare tubulopathy characterised by the presence of hyperchloremic metabolic acidosis. It is caused by the existence of a defect in the function of the H+ -ATPase located on the luminal side of the α-i
Externí odkaz:
https://doaj.org/article/924e4727fe2a4ebcba5b0af59fd8318b
Autor:
Norma E. Guerra Hernández, Circe Gómez Tenorio, Laura Paloma Méndez Silva, Teresa Moraleda Mesa, Laura I. Escobar, Carolina Salvador, Rosa Vargas Poussou, Victor M. García Nieto
Publikováno v:
Nefrología, Vol 43, Iss 4, Pp 484-490 (2023)
Resumen: La acidosis tubular renal distal (ATRd) primaria es una tubulopatía poco frecuente caracterizada por la presencia de acidosis metabólica hiperclorémica. Está generada por la existencia de un defecto en la función de la H+-ATPasa situada
Externí odkaz:
https://doaj.org/article/900e39e996c14cfc80c9fe42a8a6c444
Autor:
François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, Dominique Prié
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted fo
Externí odkaz:
https://doaj.org/article/af4dc798a5ed4466a9542dce133bb31f
Autor:
Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria and nephrocalcinos
Externí odkaz:
https://doaj.org/article/01ccaa0afe074cfb9d51e0a01c8dc7b5
Autor:
Jean-Philippe Bertocchio, Sandrine Genetet, Lydie Da Costa, Stephen B. Walsh, Bertrand Knebelmann, Julie Galimand, Lucie Bessenay, Corinne Guitton, Renaud De Lafaille, Rosa Vargas-Poussou, Dominique Eladari, Isabelle Mouro-Chanteloup
Publikováno v:
Kidney International Reports, Vol 5, Iss 3, Pp 348-357 (2020)
Introduction: Anion exchanger 1 (AE1) (SLC4A1 gene product) is a membrane protein expressed in both kidney and red blood cells (RBCs): it exchanges extracellular bicarbonate (HCO3–) for intracellular chloride (Cl–) and participates in acid−base
Externí odkaz:
https://doaj.org/article/79ff7ef222314bfb9509f28ea7aa4c2c
Autor:
Norma E. Guerra-Hernández, Karen V. Ordaz-López, Rosa Vargas-Poussou, Laura Escobar-Pérez, Víctor M. García-Nieto
Publikováno v:
Nefrología, Vol 38, Iss 6, Pp 655-659 (2018)
Resumen: Se presentan dos casos en edad pediátrica diagnosticados de acidosis tubular renal (ATR) asociada a hipotiroidismo de causa autoinmune.El caso 1 desarrolló un íleo intestinal a los 5 años de edad en el seno de un problema respiratorio. E
Externí odkaz:
https://doaj.org/article/bd4f36a9659f4efcb8cb5bb55d74d67a
Autor:
Norma E. Guerra-Hernández, Karen V. Ordaz-López, Rosa Vargas-Poussou, Laura Escobar-Pérez, Víctor M. García-Nieto
Publikováno v:
Nefrología (English Edition), Vol 38, Iss 6, Pp 655-659 (2018)
Two cases of children diagnosed with renal tubular acidosis (RTA) associated with autoimmune hypothyroidism are presented.Case 1 developed an intestinal ileus at the age of five in the context of a respiratory problem. The tests performed confirmed m
Externí odkaz:
https://doaj.org/article/914b58a9f05944c6b1148229de0924f8
Autor:
Helena Gil-Peña, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou
Publikováno v:
Nefrología (English Edition), Vol 37, Iss 4, Pp 423-428 (2017)
Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry
Externí odkaz:
https://doaj.org/article/e7663399bee74fdfa08ab663740fa88c
Autor:
Frederico Tavares, Rosa Vargas
Publikováno v:
Revista Espaço Acadêmico, Vol 16, Iss 188, Pp 155-165 (2017)
Capital, consumo e subjetividade são abordagens entrelaçadas em discussões sobre o capitalismo na atualidade segundo autores como Guattari (1985), Guattari & Rolnik (2000) e Pelbart (2003). Plugar o desejo dos consumidores na máquina de consumo g
Externí odkaz:
https://doaj.org/article/f5046a20ee5b4bf3a3f9382e54c49c2e