Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Leire Gondra"'
Autor:
Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping
Externí odkaz:
https://doaj.org/article/0ac1cc5ac3334835ae6db97c8261d02f
Autor:
Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Publikováno v:
Nefrología, Vol 41, Iss 4, Pp 383-390 (2021)
Resumen: La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica hiperclorémica persistente,
Externí odkaz:
https://doaj.org/article/b0de981a861c4d99b9bc3fc0e4562687
Autor:
Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Publikováno v:
Nefrología (English Edition), Vol 41, Iss 4, Pp 383-390 (2021)
Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting duct level. It is characterised by persistent hyperchloremic metabolic acidosis, with a norm
Externí odkaz:
https://doaj.org/article/99e2cf3a1a794fe3bb4192593d0ec367
Autor:
Luis Castaño, Maria Del Carmen Jiménez Herrero, Sara Gómez-Conde, Leire Gondra, Mireia Aguirre, Alejandro García-Castaño, Leire Madariaga
Publikováno v:
Addi. Archivo Digital para la Docencia y la Investigación
Universidad de Cantabria (UC)
instname
Nefrología, Vol 41, Iss 4, Pp 383-390 (2021)
Universidad de Cantabria (UC)
instname
Nefrología, Vol 41, Iss 4, Pp 383-390 (2021)
[ES] La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica hiperclorémica persistente, con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbc469f5b3916133ff8af5c8a263cd2
https://doi.org/10.1016/j.nefro.2020.08.015
https://doi.org/10.1016/j.nefro.2020.08.015
Autor:
Leire Gondra, Paula García-Ledesma, Luis Castaño, Gema Ariceta, Cecilia Dall'Anese, María Herrero, Leire Madariaga, Luis Martín-Penagos, Alejandro García-Castaño, Sara Gómez-Conde, Nélida García-Pérez, Mireia Aguirre
Publikováno v:
Pediatric nephrology (Berlin, Germany). 36(10)
Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal mechanisms of urinary acidification. Most cases are secondary to pathogenic variants in ATP6V0A4, ATP6V1B1, and SLC4A1 genes, which encode transporters
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce1d23d750ef1ce1fb1814cc49f7937
https://pubmed.ncbi.nlm.nih.gov/33881640
https://pubmed.ncbi.nlm.nih.gov/33881640
Autor:
Françoise Muller, Leire Gondra, Stéphane Decramer, Gihad E. Chalouhi, Rémi Salomon, Laurence Heidet
Publikováno v:
Pediatric nephrology (Berlin, Germany). 31(10)
HNF1B mutation is the leading cause of isolated hyperechogenic fetal kidneys with normal or moderately large size. Although most cases have normal amniotic fluid volume, some cases present with early oligohydramnios and renal failure associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27d5c0c4b5eb496b52f73c3117d99065
https://pubmed.ncbi.nlm.nih.gov/27286685
https://pubmed.ncbi.nlm.nih.gov/27286685
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