المؤلفون: Stepien, Karolina M, Kieć-Wilk, Beata, Lampe, Christina, Tangeraas, Trine, Cefalo, Graziella, Belmatoug, Nadia, Francisco, Rita, Del Toro, Mireia, Wagner, Leona, Lauridsen, Anne-Grethe, Sestini, Sylvia, Weinhold, Nathalie, Hahn, Andreas, Montanari, Chiara, Rovelli, Valentina, Bellettato, Cinzia M, Paneghetti, Laura, van Lingen, Corine, Scarpa, Maurizio

المساهمون: K.M. Stepien, B. Kieć-Wilk, C. Lampe, T. Tangeraa, G. Cefalo, N. Belmatoug, R. Francisco, M. Del Toro, L. Wagner, A. Lauridsen, S. Sestini, N. Weinhold, A. Hahn, C. Montanari, V. Rovelli, C.M. Bellettato, L. Paneghetti, C. van Lingen, M. Scarpa

مصطلحات موضوعية: adult metabolic patient, adulthood (18 years and older), challenge, continuity of care, inherited metabolic disease(s), rare disease, transition process, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33738294; info:eu-repo/semantics/altIdentifier/wos/WOS:000629292700001; volume:8; firstpage:1; lastpage:9; numberofpages:9; journal:FRONTIERS IN MEDICINE; https://hdl.handle.net/2434/988530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102786125

الإتاحة: https://doi.org/10.3389/fmed.2021.652358Test
https://hdl.handle.net/2434/988530Test

المؤلفون: Stepien, Karolina M., Kieć-Wilk, Beata, Lampe, Christina, Tangeraas, Trine, Cefalo, Graziella, Belmatoug, Nadia, Francisco, Rita, Del Toro, Mireia, Wagner, Leona, Lauridsen, Anne-Grethe, Sestini, Sylvia, Weinhold, Nathalie, Hahn, Andreas, Montanari, Chiara, Rovelli, Valentina, Bellettato, Cinzia M., Paneghetti, Laura, van Lingen, Corine, Scarpa, Maurizio, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Rare disease, Inherited metabolic disease(s), Transition process, Challenge, Adulthood (18 years and older), Continuity of care, Adult metabolic patient

وصف الملف: application/pdf

العلاقة: Frontiers in Medicine; Vol. 8 (february 2021); https://ddd.uab.cat/record/237950Test; urn:10.3389/fmed.2021.652358; urn:oai:ddd.uab.cat:237950; urn:pmcid:PMC7962750; urn:pmc-uid:7962750; urn:pmid:33738294; urn:oai:pubmedcentral.nih.gov:7962750

الإتاحة: https://ddd.uab.cat/record/237950Test

المؤلفون: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, Van Lingen, Corine, Scarpa, Maurizio, Matthijs, Gert, Nassogne, Marie-Cécile, Debray, François-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Das, Anihb Martin, Hennermann, Julia, Kölker, Stefan, Weinhold, Natalie, Mohnike, Klaus, Gruenert, Sarah, Lund, Allan Meldgaard, Morales-Conejo, Montserrat, Del Toro-Riera, Mireia, Aldámiz-Echevarría, Luis, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, De Lonlay, Pascale, Belmatoug, Nadia, Germain, Dominique P., Cano, Aline, Dobbelaere, Dries, 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, Tumienė, Birutė, Huidekoper, Hidde, Van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kieć-Wilk, Beata, Mendes Gaspar, Ana-Maria Simões, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Rodriges Silva, Esmeralda-Maria Ferreira, De Abreu Freire, Luísa-Maria Diogo Matos, Martins, Esmeralda, Lajic, Svetlana, Darin, Niklas, Groselj, Urh, Tansek, Mojca-Zerjav

المصدر: Orphanet journal of rare diseases., London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]. ; eISSN 1750-1172

مصطلحات موضوعية: access to treatment., European Reference Network., hereditary metabolic diseases., inborn errors of metabolism., orphan medicinal product

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:126054473/126054473.pdfTest; https://repository.vu.lt/VU:ELABAPDB126054473&prefLang=en_USTest

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://repository.vu.lt/VU:ELABAPDB126054473&prefLang=en_USTest

المؤلفون: Heard, Jean Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, Van Lingen, Corine, Scarpa, Maurizio, MetabERN collaboration group

المساهمون: Metabole ziekten patientenzorg

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product, Orphan Drug Production/methods, Metabolic Diseases/drug therapy, Humans, Metabolism, Inborn Errors/drug therapy, Surveys and Questionnaires, Drug Approval, Rare Diseases, Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/439485Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/439485Test

المؤلفون: Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio, Debray, François-Guillaume, Nassogne, Marie-C. cile, van Coster, Rudy, de Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, de Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo-Dionisi, di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, van der Ploeg, Ans, Rubio-Gozalbo, Maria-Estela, van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata, Gaspar, Ana-Maria Simões Mendes, Martins, Esmeralda, Silva, Esmeralda-Maria Ferreira Rodrigues, de Abreu Freire Diogo Matos, Luísa-Maria, Azevedo, Olga, Tansek, Mojca-Zerjav, Couce-Pico, Maria-Luz, Cazorla, Angeles Garcia, Azuara, Luis Aldámiz-Echevarría, del Toro-Riera, Mireia, Lajic, Svetlana, Darin, Niklas, Deegan, Patrick, Vijaym, Suresh, Chronopoulou, Efstathia, Jones, Simon, Chakrapani, Anupanm, Hiwot, Tarekegn

المصدر: Heard , J-M , Bellettato , C , van Lingen , C , Scarpa , M , Debray , F-G , Nassogne , M-C C , van Coster , R , de Meirleir , L , Eyskens , F , Morava , E , Baric , I , Kozich , V , Lund , A M , Germain , D , Belmatoug , N , Guffon , N , Labrune , P , Gouya , L , de Lonlay , P , Schiff , M , Dobbelaere , D , Chabrol , B , Das , A M , ....

العلاقة: https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5cTest

الإتاحة: https://doi.org/10.1186/s13023-019-1091-8Test
https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5cTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066922947&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/31142374Test

المؤلفون: Heard, Jean Michel, Bellettato, Cinzia, Van Lingen, Corine, Scarpa, Maurizio, Debray, François Guillaume, Nassogne, Marie Cécile, Van Coster, Rudy, De Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, De Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo Dionisi, Di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, Van Der Ploeg, Ans, Rubio-Gozalbo, Maria Estela, Van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata

المساهمون: Metabole ziekten patientenzorg

مصطلحات موضوعية: Europe, Humans, Interdisciplinary Research/methods, Quality of Life, Surveys and Questionnaires, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/391984Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/391984Test