Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Mireia Del Toro-Riera"'
1
Akademický článek
Implementación de programas de transición de la adolescencia a la edad adulta
Autor: Antonio Moreno-Galdó, Maria Creu Regné Alegret, María Angeles Aceituno López, María Camprodón-Gómez, Sergi Martí Beltran, Roser Lara Fernández, Mireia del-Toro-Riera
Publikováno v: Anales de Pediatría, Vol 99, Iss 6, Pp 422-430 (2023)
Resumen: Hasta un 15-20% de adolescentes tienen algún problema de salud crónico. La adolescencia representa un periodo de riesgo especial para la evolución de las enfermedades crónicas, tanto en aquellos con padecimientos con mayor prevalencia co
Externí odkaz: https://doaj.org/article/89e23f91b40f4520a872e7ba385aea0b
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2
Akademický článek
Implementation of programmes for the transition of adolescents to adult care
Autor: Antonio Moreno-Galdó, Maria Creu Regné-Alegret, María Angeles Aceituno-López, María Camprodón-Gómez, Sergi Martí-Beltran, Roser Lara-Fernández, Mireia del-Toro-Riera
Publikováno v: Anales de Pediatría (English Edition), Vol 99, Iss 6, Pp 422-430 (2023)
Up to 15–20% of adolescents have a chronic health problem. Adolescence is a period of particular risk for the development or progression of chronic diseases for both individuals with more prevalent conditions and those affected by rare diseases. Th
Externí odkaz: https://doaj.org/article/b416adafe8e546109ced318729b4bcdf
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3
Akademický článek
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
Autor: M. Mar Rovira-Remisa, Mónica Moreira, Paula Sol Ventura, Pablo Gonzalez-Alvarez, Núria Mestres, Fredzzia Graterol Torres, Clara Joaquín, Agustí Rodríguez-Palmero Seuma, Maria del Mar Martínez-Colls, Ana Roche, Salvador Ibáñez-Micó, Eduardo López-Laso, María Jesús Méndez-Hernández, Marta Murillo, Laura Monlleó-Neila, Elena Maqueda-Castellote, Mireia del Toro Riera, Ana Felipe-Rucián, Maria Giralt-López, Elisenda Cortès-Saladelafont
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100962- (2023)
Introduction: The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with c
Externí odkaz: https://doaj.org/article/a35c47124c8f40768c3c174665676a2e
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4
Akademický článek
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Autor: Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze, Christina Lampe
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly su
Externí odkaz: https://doaj.org/article/a423c78ffa064dbfada15ea503bc8467
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7
Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives
Autor: Birutė Tumienė, Mireia del Toro Riera, Jurgita Grikiniene, Rūta Samaitienė-Aleknienė, Rūta Praninskienė, Ahmad Ardeshir Monavari, Jolanta Sykut-Cegielska
Publikováno v: Scientia
Journal of multidisciplinary healthcare, Auckland : Dove Medical Press Ltd, 2022, vol. 15, p. 553-566
Integrated care; Management of emergencies Atención integrada; Gestión de emergencias Atenció integrada; Gestió d'emergències More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0344cb5cc9ee3baa7e0f7e01643753
https://pubmed.ncbi.nlm.nih.gov/35387391
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8
50 years of the Neonatal Screening Program in Catalonia.
Autor: Jose Luis, Marín Soria, Rosa Mª, López Galera, Ana, Argudo Ramírez, Jose Manuel, González de Aledo, Sonia, Pajares García, Aleix, Navarro Sastre, Jose Mª, Hernandez Pérez, Antonia, Ribes Rubio, Laura, Gort Mas, Judit, García Villoria, Silvia, Gartner Tizano, Sandra, Rovira Amigo, Oscar, Asensio de la Cruz, Miguel, García González, María, Cols Roig, Jordi, Costa Colomer, Celia, Bádenas Orquin, Diego, Yeste Fernández, Ariadna, Campos Martorell, María, Clemente León, Eduardo, Mogas Viñals, Roser, Ferrer Costa, Marina, Giralt Arnaiz, Jaume, Campistol Plana, Ángeles, García Cazorla, David, Beneitez Pastor, Ana, Ortuño Cabrero, Adoración, Blanco Álvarez, Barbara, Tazón Vega, Gael, Roué, Pablo, Velasco Puyo, Thais, Murciano Carrillo, Laura, Murillo Sanjuan, Cristina, Díaz de Heredia Rubio, Mª Del Mar, Mañú Pereira, Josep Lluis, Vives Corrons, José Antonio, Arranz Amo, Clara, Carnicer Cáceres, Mireia, Del Toro Riera, Aida, Ormazábal Herrero, Rafael, Artuch Iriberri, Camila, García-Volpe, Mariela Mercedes, de Los Santos, Cristina, Sierra March, Carlos José, Ruiz Hernández, Silvia Mª, Meavilla Olivas, Andrea, Martín Nalda, Jacques G, Rivière, Alba, Parra Martínez, Pere, Soler Palacín, Mónica, Martínez Gallo, Roger, Colobran, Teresa, Casals Senent, Mercè, Armelles Sebastia, Mª José, Vidal Benede, Mireia, Jané Checa, Rosa Mª, Fernández Bordón, Laia, Asso Ministral, Blanca, Prats Viedma, Carmen, Cabezas Peña
Publikováno v: Revista espanola de salud publica. 94
The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9e128fad52a8bcdc589a3f5de8c17c26
https://pubmed.ncbi.nlm.nih.gov/33323926
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9
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Autor: Tinatin V. Lobzhanidze, Mireia del Toro Riera, Jordi Pérez-López, Karolina M. Stepien, Nato Vashakmadze, Anait K. Gevorkyan, Christina Lampe, Christian J. Hendriksz, Govind Tol
Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Background: Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d91220252c42c7b02a1481ce5bb43ce
https://doi.org/10.1186/s13023-020-01382-z
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10
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Autor: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio, Gert, Matthijs, Marie-Cécile, Nassogne, François-Guillaume, Debray, Dominique, Roland, Teodora, Chamova, Viktor, Kozich, Jesina, Pavel, Martin, Zenker, Christina, Lampe, Anihb Martin Das, Julia, Hennermann, Stefan, Kölker, Natalie, Weinhold, Klaus, Mohnike, Sarah, Gruenert, Allan Meldgaard Lund, Montserrat, Morales-Conejo, Mireia Del Toro-Riera, Luis, Aldámiz-Echevarría, Maria-Teresa, Garcia-Silva, Manuel, Schiff, Laurent, Gouya, Pascale de Lonlay, Nadia, Belmatoug, Dominique, P Germain, Aline, Cano, Dries, Dobbelaere, Simon, Jones, Charlotte, Dawson, Patrick, Deegan, Saikat, Santra, Suresh, Vijay, Danijela Petkovic Ramadza, Ivo, Barić, Tamara, Žigman, György, Pflieger, Katalin, Szakszon, Rita, Kaposta, Serena, Gasperini, Alberto, Burlina, Giancarlo, Parenti, Pietro, Strisciuglio, Giovanni, Ceccarini, Antonio, Federico, Simonati, Alessandro, Birute, Tumiene, Hidde, Huidekoper, Francian van Spronsen, Annet, Bosch, Maria-Estela, Rubio-Gozalbo, Gepke, Visser, Trine, Tangeraas, Aasne, Aarsand, Beata, Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Dulce, Quelhas, Elisa, Leao-Teles, Olga, Azevedo, Esmeralda-Maria Ferreira Rodriges Silva, Luísa-Maria de Abreu Freire Diogo Matos, Esmeralda, Martins, Svetlana, Lajic, Niklas, Darin, Urh, Groselj, Mojca-Zerjav, Tansek
Publikováno v: Orphanet journal of rare diseases, London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]
Orphanet journal of rare diseases, Vol. 15, no. 1, p. 3 [1-10] (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd
Orphanet journal of rare diseases, 15(1):3. BioMed Central
Background The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bc53a73c6dd8801f1b116f34a52535
https://doi.org/10.1186/s13023-019-1280-5
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