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1دورية أكاديمية
المؤلفون: Almeida, Catarina MariaAff1, Aff2, IDs43042023003870_cor1, Rodrigues, Esmeralda, Campos, Teresa Almeida, Vilarinho, Laura, Teles, Elisa Leão
المصدر: Egyptian Journal of Medical Human Genetics. 24(1)
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2دورية أكاديمية
المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri
المصدر: Journal of Inherited Metabolic Disease. 42(1)
مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5h73x4jb
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3دورية أكاديمية
المؤلفون: Quelhas, Dulce, Martins, Esmeralda, Azevedo, Luísa, Bandeira, Anabela, Diogo, Luísa, Garcia, Paula, Sequeira, Sílvia, Ferreira, Ana Cristina, Teles, Elisa Leão, Rodrigues, Esmeralda, Fortuna, Ana Maria, Mendonça, Carla, Fernandes, Helena Cabral, Medeira, Ana, Gaspar, Ana, Janeiro, Patrícia, Oliveira, Anabela, Laranjeira, Francisco, Ribeiro, Isaura, Souche, Erica, Race, Valérie, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak
المصدر: In The Journal of Pediatrics April 2021 231:148-156
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4دورية أكاديمية
المؤلفون: Andrade, Fernando, Vitoria, Isidro, Martín Hernández, Elena, Pintos-Morell, Guillem, Correcher, Patricia, Puig-Piña, Rocío, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Marquez, Ana Mª, Villate, Olatz, García Silva, Mª Teresa, de las Heras, Javier, Ceberio, Leticia, Rodrigues, Esmeralda, Almeida Campos, Teresa, Yahyaoui, Raquel, Blasco, Javier, Vives-Piñera, Inmaculada, Gil, David, del Toro, Mireia, Ruiz-Pons, Mónica, Cañedo, Elvira, Barba Romero, Miguel Angel, García-Jiménez, Mª Concepción, Aldámiz-Echevarría, Luis
المصدر: In Journal of Pharmaceutical and Biomedical Analysis 30 November 2019 176
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5كتاب إلكتروني
المؤلفون: Pereira, SandraAff13, Adrião, MarianaAff13, Sampaio, MafaldaAff13, Aff14, Basto, Margarida AyresAff15, Rodrigues, EsmeraldaAff13, Aff16, Vilarinho, LauraAff17, Teles, Elisa LeãoAff13, Aff16, Alonso, IsabelAff18, Aff19, Leão, MiguelAff20, Aff21
المساهمون: Baumgartner, Matthias, Series EditorAff1, Aff8, Patterson, Marc, Series EditorAff2, Aff9, Rahman, Shamima, Series EditorAff3, Aff10, Peters, Verena, Series EditorAff4, Aff12, Morava, Eva, Editor-in-ChiefAff5, Aff7, Zschocke, Johannes, Series EditorAff6, Aff11
المصدر: JIMD Reports, Volume 42. 42:113-119
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Magalhães, Augusto Monteiro, Moleiro, Ana Filipa, Rodrigues, Esmeralda, Castro, Sérgio, Fonseca, José, Leão‐Teles, Elisa
المصدر: Journal of Inherited Metabolic Disease Reports; Mar2023, Vol. 64 Issue 2, p129-137, 9p
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10دورية أكاديمية
المؤلفون: Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1041-1057