Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Antonio, González Meneses"'
Autor:
María Heredia-Torrejón, Raúl Montañez, Antonio González-Meneses, Atilano Carcavilla, Miguel A. Medina, Alfonso M. Lechuga-Sancho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract The diagnostic odysseys for rare disease patients are getting shorter as next-generation sequencing becomes more widespread. However, the complex genetic diversity and factors influencing expressivity continue to challenge accurate diagnosis
Externí odkaz:
https://doaj.org/article/e0e505386b544a9fa9b07c54af507670
Autor:
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Autor:
Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic varia
Externí odkaz:
https://doaj.org/article/5249bd137dc243e5939c2dcaabf1b844
Autor:
Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100774- (2021)
Vestronidase alfa is an enzyme replacement therapy for mucopolysaccharidosis VII (MPS VII). In this open-label, phase 1/2 study, three subjects with MPS VII received intravenous vestronidase alfa administered every other week (QOW) for 14 weeks (2 mg
Externí odkaz:
https://doaj.org/article/297f569dcaed4705b7582aae504318a9
Akademický článek
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Autor:
Patrícia Janeiro, María Ángeles Ruiz, Antonio González-Meneses, Mercè Pineda, Luísa Diogo, Anabela Bandeira, Ramón Cancho-Candela
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is est
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104fba0f0a56d7225e402d2f2aadefd0
https://doaj.org/article/72104a0d828544ed9e06b17ee583309d
https://doaj.org/article/72104a0d828544ed9e06b17ee583309d
Autor:
Folasade P. May, Jennifer Bocek, Lily Roh, Liu Yang, Anthony Myint, Marcela Zhou Huang, Naveen Raja, Edgar Corona, Vivy T. Cusumano, Maria Han, Antonio González-Meneses López, Daniel M. Croymans, Anna Dermenchyan
Publikováno v:
Digestive Diseases and Sciences
The fecal immunochemical test (FIT) is a common colorectal cancer screening modality in the USA but often is not followed by diagnostic colonoscopy. We investigated the efficacy of patient navigation to increase diagnostic colonoscopy after positive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c17746246405261df48e212eef11db8
https://doi.org/10.1007/s10620-021-06866-x
https://doi.org/10.1007/s10620-021-06866-x
Autor:
Jose D Santotoribio, Salvador García-Morillo, Hernández-Arévalo Paula, Hada C. Macher, Juan M. Guerrero, Pilar Jiménez-Arriscado, Antonio González-Meneses, Rocío Delarosa-Rodríguez
Publikováno v:
Clinical Genetics. 99:761-771
The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD) in males and females and to compare the diagnostic role of α-galactosidase A activity (α-G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a41f26898806aa75f0f2dbd852374b1d
https://doi.org/10.1111/cge.13936
https://doi.org/10.1111/cge.13936
Autor:
Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Angel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86286 (2014)
OBJECTIVE: To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. METHODS: We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundar
Externí odkaz:
https://doaj.org/article/fe074f3ba900410ea1adf5b2ed1a79b0
Autor:
Javier Sánchez, Ana Peciña, Olga Alonso-Luengo, Antonio González-Meneses, Rocío Vázquez, Guillermo Antiñolo, Salud Borrego
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a c
Externí odkaz:
https://doaj.org/article/cef7df391f38426a93c1e3c00295748b