Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Montserrat Morales‐Conejo"'
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:
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:
Isabel Solares, Carlos Heredia-Mena, Francisco Javier Castelbón, Daniel Jericó, Karol Marcela Córdoba, Antonio Fontanellas, Rafael Enríquez de Salamanca, Montserrat Morales-Conejo
Publikováno v:
Diagnostics, Vol 11, Iss 11, p 2148 (2021)
Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given
Externí odkaz:
https://doaj.org/article/385d25f289b04ec9b712b3913c9333c9
Autor:
Isabel Solares, Laura Izquierdo-Sánchez, Montserrat Morales-Conejo, Daniel Jericó, Francisco Javier Castelbón, Karol Marcela Córdoba, Ana Sampedro, Carlos Lumbreras, María Jesús Moreno-Aliaga, Rafael Enríquez de Salamanca, Pedro Berraondo, Antonio Fontanellas
Publikováno v:
Biomedicines, Vol 9, Iss 3, p 255 (2021)
Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production of neurotoxic heme precursors. First-line therapy is based on carbohydrate loading. However, altered glucose homeostasis could affect i
Externí odkaz:
https://doaj.org/article/3aab24dd2c714a818c80a752618c7a6b
Autor:
Ángel Torralba-Morón, Juan Ortiz-Imedio, Montserrat Morales-Conejo, Juan Ruiz-Morales, Juan-Manuel Guerra-Vales
Publikováno v:
European Journal of Case Reports in Internal Medicine, Vol 4, Iss 2 (2017)
Background: Delayed leukoencephalopathy (DL) is a rare entity associated with cerebral hypoxia and heroin consumption. We describe the clinical course of three cases of DL due to non-heroin drug use. Material and methods: We describe the cases of th
Externí odkaz:
https://doaj.org/article/322e3dd8a88c4cb6b508d2117d00ac7d
Autor:
María Ángeles Aranda-Calleja, Vicente Paraíso-Cuevas, Montserrat Morales-Conejo, Bernardo Andy Castro-Fernández, Óscar Toldos-González
Publikováno v:
Revista Española de Casos Clínicos en Medicina Interna. 8:35-38
Actualmente disponemos de la prueba del talón en el recién nacido para despistaje de los principales errores congénitos del metabolismo entre otras patologías que incluyen el déficit de 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa. En este caso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcdc2c1f982d453b6dfe0a66d316166a
https://doi.org/10.32818/reccmi.a8n1a12
https://doi.org/10.32818/reccmi.a8n1a12
Autor:
María Paz Guerrero‐Molina, Montserrat Morales‐Conejo, Aitor Delmiro, María Morán, Cristina Domínguez‐González, Elena Arranz‐Canales, Ana Ramos‐González, Joaquín Arenas, Miguel A. Martín, Jesús González de la Aleja
Publikováno v:
European Journal of Neurology. 30:538-547
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder caused by mitochondrial DNA mutations. There are no disease-modifying therapies, and treatment remains mainly supportiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a28a4372a7d3c9c12cc5d01071c5e97
https://doi.org/10.1111/ene.15626
https://doi.org/10.1111/ene.15626
Publikováno v:
JIMD Reports. 64:90-103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc5178118183267460017555033c9b4f
https://doi.org/10.1002/jmd2.12342
https://doi.org/10.1002/jmd2.12342
Autor:
Dolores Canales-Siguero, Carmen García-Muñoz, Pilar Quijada Fraile, Montserrat Morales Conejo, José Miguel Ferrari-Piquero, Elena Martín-Hernández
Publikováno v:
Medicina Clínica (English Edition). 159:380-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d4cec99328f526eb7513ac7839e2c10
https://doi.org/10.1016/j.medcle.2022.09.002
https://doi.org/10.1016/j.medcle.2022.09.002