نتائج البحث - "Mireia del-Toro-Riera"

المساهمون: Institut Català de la Salut, [Rovira-Remisa MM, Mestres N] Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. [Moreira M] Department of Psychiatry, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. Universitat Autònoma de Barcelona, Campus Can Ruti, Badalona, Spain. [Ventura PS] Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Spain. Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. [Gonzalez-Alvarez P] Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. [Graterol Torres F] Department of Nephrology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. [del Toro Riera M, Felipe-Rucián A] Servei de Neurologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Health Care (Public Health)::Health of Specific Groups::Mental Health [PUBLIC HEALTH], Quality of life, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Depression, Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], Anxiety, COVID-19 (Malaltia), Rare diseases, Nutritional and Metabolic Diseases::Metabolic Diseases [DISEASES], enfermedades nutricionales y metabólicas::enfermedades metabólicas [ENFERMEDADES], afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], Endocrinology, virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Genetics, Metabolisme, Errors congènits del, Inherited metabolic disease, Malalties rares, Salut mental, Molecular Biology, atención a la salud (salud pública)::salud de grupos específicos::salud mental [SALUD PÚBLICA]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c0505c92adf17cee5d4e5766f94febaTest
https://ddd.uab.cat/record/273227Test

7

Influence of Initial Clinical Guidance on the Diagnostic Yield by Laboratory Enzymatic Testing in Lysosomal Storage Disorders. Experience from a Multispecialty Hospital

المصدر: SSRN Electronic Journal.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5848bdafc9fc834eaac54b3c59083e07Test
https://doi.org/10.2139/ssrn.4080037Test

8

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

المؤلفون: Birutė Tumienė, Mireia del Toro Riera, Jurgita Grikiniene, Rūta Samaitienė-Aleknienė, Rūta Praninskienė, Ahmad Ardeshir Monavari, Jolanta Sykut-Cegielska

المساهمون: Institut Català de la Salut, [Tumienė B] Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. Vilnius University Hospital Santaros klinikos, Vilnius, Lithuania. [Del Toro Riera M] Servei de Neurologia Pediàtrica, Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Grikiniene J, Samaitiene-Aleknienė R, Praninskienė R] Clinic of Children’s Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. [Monavari AA] National Centre for Inherited Metabolic Disorders, Children’s Health Ireland at Temple Street Dublin, Dublin, Ireland. University College Dublin, Dublin, Ireland. [Sykut-Cegielska J] Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
Journal of multidisciplinary healthcare, Auckland : Dove Medical Press Ltd, 2022, vol. 15, p. 553-566

مصطلحات موضوعية: Pediatria, Health Occupations::Medicine::Pediatrics [DISCIPLINES AND OCCUPATIONS], Other subheadings::/therapy [Other subheadings], General Medicine, Metabolisme - Trastorns - Tractament, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy [DISEASES], Epilèpsia, Nutritional and Metabolic Diseases::Metabolic Diseases [DISEASES], enfermedades nutricionales y metabólicas::enfermedades metabólicas [ENFERMEDADES], enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia [ENFERMEDADES], profesiones sanitarias::medicina::pediatría [DISCIPLINAS Y OCUPACIONES], integrated care, transition, care pathways, care coordination, patient empowerment, management of emergencies, Otros calificadores::/terapia [Otros calificadores], General Nursing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0344cb5cc9ee3baa7e0f7e01643753Test
https://pubmed.ncbi.nlm.nih.gov/35387391Test

9

50 years of the Neonatal Screening Program in Catalonia.

المؤلفون: 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

المصدر: Revista espanola de salud publica. 94

مصطلحات موضوعية: Neonatal Screening, Spain, Infant, Newborn, Humans, History, 20th Century, History, 21st Century

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9e128fad52a8bcdc589a3f5de8c17c26Test
https://pubmed.ncbi.nlm.nih.gov/33323926Test

10

دورية أكاديمية

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

المؤلفون: 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, Alessandro Simonati, 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

المساهمون: Jean-Michel, Heard, Charlotte, Vrinten, Michael, Schlander, Cinzia Maria, Bellettato, Corine, van Lingen, Maurizio, Scarpa, Matthijs, Gert, Nassogne, Marie-Cécile, Debray, François-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Martin Das, Anihb, Hennermann, Julia, Kölker, Stefan, Weinhold, Natalie, Mohnike, Klau, Gruenert, Sarah, Meldgaard Lund, Allan, Morales-Conejo, Montserrat, Del Toro-Riera, Mireia, Aldámiz-Echevarría, Lui, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, de Lonlay, Pascale, Belmatoug, Nadia, P Germain, Dominique, Cano, Aline, Dobbelaere, Drie, Jones, Simon, Dawson, Charlotte, Deegan, Patrick, Santra, Saikat, Vijay, Suresh, Petkovic Ramadza, Danijela, Barić, Ivo, Žigman, Tamara, Pflieger, György, Szakszon, Katalin, Kaposta, Rita, Gasperini, Serena, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Ceccarini, Giovanni, Federico, Antonio, Simonati, Alessandro, Tumiene, Birute, Huidekoper, Hidde, van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kieć-Wilk, Beata, Simões Mendes Gaspar, Ana-Maria, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Ferreira Rodriges Silva, Esmeralda-Maria, de Abreu Freire Diogo Matos, Luísa-Maria, Martins, Esmeralda, Lajic, Svetlana, Darin, Nikla, Groselj, Urh, Tansek, Mojca-Zerjav

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31907071; info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; issue:3; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11562/1031329Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5Test; https://doi.org/10.1186/s13023-019-1280-5Test

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
http://hdl.handle.net/11562/1031329Test

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