Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lidya Rodríguez-Peña"'
Autor:
Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during no
Externí odkaz:
https://doaj.org/article/2d572edc54f34f60976ee25f97abbae7
Autor:
Manuel Santa-Olalla González, Inmaculada López Jiménez, Víctor Martínez Jiménez, Liliana Galbis Martínez, Encarna Guillén Navarro, Lidya Rodríguez Peña, Ana Noelia Hernández González, Guadalupe Ruiz Merino
Publikováno v:
Nefrología, Vol 41, Iss 3, Pp 362-364 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeff768eedaf22a17619a484645818c8
http://www.sciencedirect.com/science/article/pii/S0211699520301132
http://www.sciencedirect.com/science/article/pii/S0211699520301132
Autor:
Víctor, Martínez Jiménez, Ana Noelia, Hernández González, Inmaculada, López Jiménez, Lidya, Rodríguez Peña, Liliana, Galbis Martínez, Manuel, Santa-Olalla González, Guadalupe, Ruiz Merino, Encarna, Guillén Navarro
Publikováno v:
Nefrología (English Edition), Vol 41, Iss 3, Pp 362-364 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d22cad2a66aa46604eecc526d2a1783f
http://www.sciencedirect.com/science/article/pii/S2013251421000626
http://www.sciencedirect.com/science/article/pii/S2013251421000626
Autor:
María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when the patient is affec
Externí odkaz:
https://doaj.org/article/16b59a2700154415b1be767b79cb1ab8
Autor:
María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis. Manifest AIP (MAIP) is considered when carriers develop typica
Externí odkaz:
https://doaj.org/article/e6051122f8c44006bef3af61a9858543
Autor:
Víctor Martínez Jiménez, Ana Noelia Hernández González, Inmaculada López Jiménez, Lidya Rodríguez Peña, Liliana Galbis Martínez, Manuel Santa-Olalla González, Guadalupe Ruiz Merino, Encarna Guillén Navarro
Publikováno v:
Nefrología, Vol 41, Iss 3, Pp 362-364 (2021)
Externí odkaz:
https://doaj.org/article/d59b225293bc4bceba163cf48d57d0c7