Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Ramón Cancho Candela"'
Autor:
Pablo del Villar Guerra, Ana Martínez Flórez, Cristina Catalina Fernández, Ramón Cancho Candela, Fernando Centeno Malfaz
Publikováno v:
Anales de Pediatría (English Edition), Vol 96, Iss 5, Pp 449-451 (2022)
Externí odkaz:
https://doaj.org/article/e5713a895afc49f2b48ec6866ea1b07f
Autor:
Pablo del Villar Guerra, Ana Martínez Flórez, Cristina Catalina Fernández, Ramón Cancho Candela, Fernando Centeno Malfaz
Publikováno v:
Anales de Pediatría, Vol 96, Iss 5, Pp 449-451 (2022)
Externí odkaz:
https://doaj.org/article/84e1adcfc1e64a578f60307b44b11216
Autor:
Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract 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 prevalen
Externí odkaz:
https://doaj.org/article/72104a0d828544ed9e06b17ee583309d
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
Autor:
Andrés Nascimento, Samuel I. Pascual-Pascual, Laura Costa-Comellas, Daniel Natera-de Benito, Maria Josefa Martinez Garcia, M. Fernandez-Garcia, Elena Martínez del Val, Inmaculada Medina Martínez, Óscar García-Campos, Mar García-Romero, María Concepción Miranda-Herrero, Sergio Aguilera-Albesa, Júlia Rúbies Olives, Ramón Cancho-Candela, David Gómez-Andrés
Publikováno v:
Journal of Neurology
Objective Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuro
Autor:
E. Aísa, V. Freniche, Oscar Jerez García, Belén Pérez-Dueñas, N. Conde-Lorenzo, Celia Pérez-Cerdá, M.C. Miranda, Mercè Bolasell, Jordi Muchart, Manuel B. Morales, D. Itzep, F. Carratalá, I. Sebastián-García, Maria Eugenia Yoldi, E. de la Morena, S. Gassiot, L. López, María L. Couce, Jaak Jaeken, Sergio Aguilera-Albesa, Rafael Artuch, Raquel Montero, P. Arango, Luis González Gutiérrez-Solana, Dídac Casas-Alba, Daniel Cuadras, Mercedes Serrano, Susana Roldán, M.L. Carrasco-Marina, Antonio Martinez-Monseny, Alfons Macaya, Belén Pérez, Eduardo López-Laso, Javier Corral, L. Callejón-Póo, Ramón Velázquez-Fragua, M.C. Sierra-Córcoles, Ramón Cancho-Candela
Publikováno v:
Annals of Neurology. 85:740-751
Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for
Autor:
Cristina Catalina Fernández, Pablo del Villar Guerra, Fernando Centeno Malfaz, Ramón Cancho Candela, Ana Martínez Flórez
Publikováno v:
Anales de Pediatría
Anales De Pediatria (Barcelona, Spain : 2003)
Anales De Pediatria (Barcelona, Spain : 2003)
Autor:
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile
Externí odkaz:
https://doaj.org/article/0568809a129f48fbad0bdc994d49c60e
Autor:
Pilar Quirós-Expósito, Carmen Soria-Martín, Pablo Conde-Bartolomé, Christine Bulteau, Pablo-A. Conde-Guzón, Ramón Cancho-Candela
Publikováno v:
Epilepsybehavior : EB. 105
Background Epilepsy is a chronic neurological condition that affects the quality of life (QoL) of patients and their families. In this study, we compare two sets of reports on QoL that were completed by two samples of parents whose children have epil
Autor:
Cristina Fernández, Ramón Cancho Candela, Antonio Hedrera Fernández, Esther Maldonado Ruiz, María Montesclaros Hortigüela Saeta, Saturnino Ortiz Madinaveitia, David Conejo Moreno, Aranzazu Hernández Fabian, Irene Ruíz Ayúcar de la Vega
Publikováno v:
Anales de Pediatría, Vol 85, Iss 6, Pp 300-304 (2016)
Resumen: Introducción: Las crisis parainfecciosas son crisis convulsivas afebriles en el contexto de infecciones banales en niños sin afectación neurológica, siendo aún una patología poco conocida en nuestro medio. Métodos: Estudio retrospecti