Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Leire Madariaga"'
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:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionThe disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory findin
Externí odkaz:
https://doaj.org/article/51578622940e427eba478d487f7ac7a3
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
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Incidence and prevalence of urolithiasis is apparently increasing worldwide, also among children and adolescents. Nevertheless, robust data have only been obtained in a few countries. In Spain, a voluntary Registry for Pediatric Renal Lithiasis has b
Externí odkaz:
https://doaj.org/article/4d1a7831f3254b0bb9f15a59269c9200
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:
Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos, RenalTubeGroup
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestation
Externí odkaz:
https://doaj.org/article/66beb24ba93343f7bb984a5886faa736
Autor:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder
Externí odkaz:
https://doaj.org/article/21ec769fee1348db929c1757673e7caa
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
Autor:
Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, Luis Castaño
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion a
Externí odkaz:
https://doaj.org/article/bdc46244501e4e9bb1bdb94e26bcc9a3
Autor:
Alejandro García‐Castaño, Ana Perdomo‐Ramirez, Mònica Vall‐Palomar, Elena Ramos‐Trujillo, Leire Madariaga, Gema Ariceta, Felix Claverie‐Martin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, and progressive chroni
Externí odkaz:
https://doaj.org/article/bceb1a725ee9429f978d8a8b1efc301d