Zobrazeno 1 - 3
of 3
pro vyhledávání: '"María Isabel Esteban-Rodríguez"'
Autor:
Eva Manuela Pena-Burgos, Rita María Regojo, Miguel Sáenz de Pipaón, Fernando Santos-Simarro, Pedro Ruiz-Sala, Belén Pérez, María Isabel Esteban-Rodríguez
Publikováno v:
Pediatric and Developmental Pathology. 26:138-143
Short-chain enoyl-CoA hydratase 1 (ECHS1) is an enzyme that participates in the metabolism of valine, transforming methacrylyl-CoA in β–hydroxy–isobutyryl-CoA. There is an accumulation of intermediate acids and ammonium as a consequence of its d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5310d90732bbd570176ba1a177324eb4
https://doi.org/10.1177/10935266221134650
https://doi.org/10.1177/10935266221134650
Autor:
Frederick M Vaz, Mariona Guitart-Mampel, Leslie Matalonga, Antonia Ribes, Sabrina Gea-Sorli, Francesc Cardellach, María Isabel Esteban Rodríguez, Isidre Ferrer, Xènia Ferrer-Cortès, Cristina Fillat, Laura Texidó, Sergi Beltran, Laura Gort, María Teresa García-Silva, Judit García-Villoria, Angela Arias, Ronald Ja Wanders, Glòria Garrabou, Olatz Ugarteburu, Ana Pristoupilova, Frederic Tort
Publikováno v:
Human mutation, 40(10), 1700-1712. Wiley-Liss Inc.
3-Methylglutaconic aciduria (3-MGA-uria) syndromes comprise a heterogeneous group of diseases associated with mitochondrial membrane defects. Whole-exome sequencing identified compound heterozygous mutations in TIMM50 (c.[341 G>A];[805 G>A]) in a boy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1931124d6e24483a9c318ea91be8d3bc
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85072717246&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85072717246&origin=inward
Autor:
Clara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, Elena Vallespín, Pablo Lapunzina, Paloma Martínez, Samuel I Pascual, Jesús Molano, Carmen Prior
Publikováno v:
Annals of Indian Academy of Neurology, Vol 20, Iss 2, Pp 164-165 (2017)
Externí odkaz:
https://doaj.org/article/305fe8d4fe3e41f38edb190eedddb9e9