Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Montserrat Morales"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Patients with Fabry disease (FD) consider their quality of life to be significantly affected. The majority of studies evaluate the quality of life using quantitative measures and standardised scales that offer relevant information
Externí odkaz:
https://doaj.org/article/dfa486f513734cf9a52d5a807dc6b7fc
Autor:
Irene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos, María Ángeles Fernández-Galán, Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga, Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz, Patricia Correcher-Medina, Luis Javier García-Frade, Jesús María Hernández-Rivas, Francesca Labbadia, Jesus Miguel López-Dupla, María Luisa Lozano-Almela, Elvira Mora-Casterá, María Soledad Noya-Pereira, María Ángeles Ruíz-Guinaldo, María del Mar Tormo-Díaz, Isidro Vitoria-Miñana, Isidro Arévalo-Vargas, Marcio Andrade-Campos, Pilar Giraldo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized the
Externí odkaz:
https://doaj.org/article/117cc15479cb4170b8e7211100fa9146
Autor:
Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 579 (2024)
Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impa
Externí odkaz:
https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5
Autor:
Alejandro Herrero San Martin, Cristina Dominguez Gonzalez, Montserrat Morales Conejo, Maria Elena Hernández Salas, Jesús Hernández Gallego
Publikováno v:
Cephalalgia Reports, Vol 6 (2023)
Objective: Describe the characteristics and prevalence of headache in patients with mitochondrial diseases (MDs), as well as sleep quality, trying to observe possible associations. To assess whether these patients are more likely to suffer headaches
Externí odkaz:
https://doaj.org/article/ab07d22912d1450086ef74cc3f60fee8
Autor:
Pilar Giraldo, Marcio Andrade‐Campos, Montserrat Morales, the SEGA (SEguimiento del paciente de GAucher, Gaucher patient follow‐up) Group
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 90-103 (2023)
Abstract Management of Gaucher disease (GD) is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Sixteen face‐to‐face meetings with experts were held in order to disc
Externí odkaz:
https://doaj.org/article/3cdffada56f642dca041c28224b8dd3c
Autor:
Juan de Dios García-Díaz, Mónica López-Rodríguez, Montserrat Morales-Conejo, Antoni Riera-Mestre, Minority Diseases Working Group from the Spanish Society of Internal Medicine
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routines. In this study we a
Externí odkaz:
https://doaj.org/article/7443be0ca9564c19a9285f2e81b89ec6
Autor:
Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous
Externí odkaz:
https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5
Autor:
Elena Cristina De Sautu De Borbón, Juan Manuel Guerra Vales, Carlos Lumbreras Bermejo, Felix Guerrero Ramos, María José Buj Padilla, Jesús González de la Aleja, Montserrat Morales Conejo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background and objective Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic characteris
Externí odkaz:
https://doaj.org/article/021e105bb2b74abb83e5b715f8122a69
Autor:
Gema Ariceta, María José Buj, Mónica Furlano, Víctor Martínez, Anna Matamala, Montserrat Morales, Nicolás Roberto Robles, Laia Sans, Felipe Villacampa, Roser Torra
Publikováno v:
Nefrología (English Edition), Vol 40, Iss 2, Pp 142-151 (2020)
Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with a broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in the paediatric age, the paediatric neurologist takes on spec
Externí odkaz:
https://doaj.org/article/389f8b600ab7424194285b889f0050f3
Autor:
Gema Ariceta, María José Buj, Mónica Furlano, Víctor Martínez, Anna Matamala, Montserrat Morales, Nicolás Roberto Robles, Laia Sans, Felipe Villacampa, Roser Torra
Publikováno v:
Nefrología, Vol 40, Iss 2, Pp 142-151 (2020)
Resumen: El complejo esclerosis tuberosa (CET) es una enfermedad rara, hereditaria, multisistémica y con un amplio espectro fenotípico. Su manejo requiere de la colaboración de múltiples especialistas. Así como en la edad pediátrica cobra un es
Externí odkaz:
https://doaj.org/article/f5aab9bcc69a4613abca8349ed45a8d9