المؤلفون: Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy

المصدر: Redox Biology, Vol 58, Iss , Pp 102517- (2022)

مصطلحات موضوعية: Sulfite oxidase, Molybdenum cofactor, Cystathionine γ-lyase, Cystathionine β-synthase, Sulfide:quinone oxidoreductase, Persulfide dioxygenase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213231722002890Test; https://doaj.org/toc/2213-2317Test

الوصول الحر: https://doaj.org/article/c104284c656d4baba6f0fc3dc95350b4Test

المؤلفون: Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/f7fdb958d90148a694eda2e93c480badTest

المؤلفون: Paula Sánchez-Pintos, Silvia Meavilla, María Goretti López-Ramos, Ángeles García-Cazorla, Maria L. Couce

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: dietary treatment, intravenous branched-chain amino acid-free formula, metabolic decompensation, metabolic emergency treatment, MSUD, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.969741/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/3c1d40d9b60c4a8f9240123fde95bdbbTest

المؤلفون: Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Vitamin B12 deficiency, Homocysteine, Methylmalonic acid, Methylcitric acid, Newborn screening, Second-tier test, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/61104677d41940e4bdc41c1f07d3e805Test

المؤلفون: Ana Tost, Carolina Migliorelli, Alejandro Bachiller, Inés Medina-Rivera, Sergio Romero, Ángeles García-Cazorla, Miguel A. Mañanas

المصدر: Entropy, Vol 23, Iss 8, p 1030 (2021)

مصطلحات موضوعية: Rett Syndrome (RTT), electroencephalography (EEG), artifact detection, data distribution, energy function, accelerometer, Science, Astrophysics, QB460-466, Physics, QC1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1099-4300/23/8/1030Test; https://doaj.org/toc/1099-4300Test

الوصول الحر: https://doaj.org/article/feea68fde0824dac8fdc507bad8d442dTest

المؤلفون: Dolores Garcia-Arenas, Blanca Barrau-Martinez, Arnau Gonzalez-Rodriguez, Rafael Llorach, Jaume Campistol-Plana, Angeles García-Cazorla, Aida Ormazabal, Mireia Urpi-Sarda

المصدر: Nutrients; Volume 15; Issue 15; Pages: 3475

مصطلحات موضوعية: inborn errors of intermediate protein metabolism, special low-protein foods, low-protein diet, database

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Nutrition and Public Health; https://dx.doi.org/10.3390/nu15153475Test

الإتاحة: https://doi.org/10.3390/nu15153475Test

المؤلفون: Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Salvador Ibáñez-Micó, Beatriz Muñoz-Cabello, Olga Alonso-Luengo, Víctor Soto-Insuga, Deyanira García-Navas, Laura Cuesta-Herraiz, Patricia Andreo-Lillo, Sergio Aguilera-Albesa, Antonio Hedrera-Fernández, Elena González Alguacil, Rocío Sánchez-Carpintero, Fernando Martín Del Valle, Erika Jiménez González, Lourdes Cean Cabrera, Ines Medina-Rivera, Marta Perez-Ordoñez, Roser Colomé, Laura Lopez, María Engracia Cazorla, Montserrat Fornaguera, Aida Ormazabal, Itziar Alonso-Colmenero, Katia Sofía Illescas, Sol Balsells-Mejía, Rosanna Mari-Vico, Maria Duffo Viñas, Gerarda Cappuccio, Gaetano Terrone, Roberta Romano, Filippo Manti, Mario Mastrangelo, Chiara Alfonsi, Bruna de Siqueira Barros, Mathilde Nizon, Cathrine Elisabeth Gjerulfsen, Valeria L Muro, Daniela Karall, Fiona Zeiner, Silvia Masnada, Irene Peterlongo, Alfonso Oyarzábal, Ana Santos-Gómez, Xavier Altafaj, Ángeles García-Cazorla

المساهمون: Juliá-Palacios, Natalia, Olivella, Mireia, Sigatullina Bondarenko, Mariya, Ibáñez-Micó, Salvador, Muñoz-Cabello, Beatriz, Alonso-Luengo, Olga, Soto-Insuga, Víctor, García-Navas, Deyanira, Cuesta-Herraiz, Laura, Andreo-Lillo, Patricia, Aguilera-Albesa, Sergio, Hedrera-Fernández, Antonio, González Alguacil, Elena, Sánchez-Carpintero, Rocío, Martín Del Valle, Fernando, Jiménez González, Erika, Cean Cabrera, Lourde, Medina-Rivera, Ine, Perez-Ordoñez, Marta, Colomé, Roser, Lopez, Laura, Engracia Cazorla, María, Fornaguera, Montserrat, Ormazabal, Aida, Alonso-Colmenero, Itziar, Sofía Illescas, Katia, Balsells-Mejía, Sol, Mari-Vico, Rosanna, Duffo Viñas, Maria, Cappuccio, Gerarda, Terrone, Gaetano, Romano, Roberta, Manti, Filippo, Mastrangelo, Mario, Alfonsi, Chiara, de Siqueira Barros, Bruna, Nizon, Mathilde, Elisabeth Gjerulfsen, Cathrine, L Muro, Valeria, Karall, Daniela, Zeiner, Fiona, Masnada, Silvia, Peterlongo, Irene, Oyarzábal, Alfonso, Santos-Gómez, Ana, Altafaj, Xavier, García-Cazorla, Ángeles

مصطلحات موضوعية: N-methyl-d-aspartate receptor, l-serine, developmental and epileptic encephalopathy, neurodevelopmental disorder, precision medicine

العلاقة: journal:BRAIN; https://hdl.handle.net/11588/953628Test

الإتاحة: https://doi.org/10.1093/brain/awae041Test
https://hdl.handle.net/11588/953628Test

المؤلفون: Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), SYNGAP1, rare disease, interictal epileptiform discharges, diffuse fast activity, autism spectrum disorder, EEG, disorganized background activity, developmental and epileptic encephalopathy

العلاقة: https://figshare.com/articles/dataset/Table1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_xlsx/25340104Test

الإتاحة: https://doi.org/10.3389/fcell.2024.1321282.s002Test
https://figshare.com/articles/dataset/Table1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_xlsx/25340104Test

المؤلفون: Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), SYNGAP1, rare disease, interictal epileptiform discharges, diffuse fast activity, autism spectrum disorder, EEG, disorganized background activity, developmental and epileptic encephalopathy

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_pdf/25340101Test

الإتاحة: https://doi.org/10.3389/fcell.2024.1321282.s001Test
https://figshare.com/articles/dataset/DataSheet1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_pdf/25340101Test

المؤلفون: Sonia Pajares (10732549), Jose Antonio Arranz (10732552), Aida Ormazabal (3165903), Mireia Del Toro (10732555), Ángeles García-Cazorla (10732558), Aleix Navarro-Sastre (10732561), Rosa María López (10732564), Silvia María Meavilla (10732567), Mariela Mercedes de los Santos (10732570), Camila García-Volpe (10732573), Jose Manuel González de Aledo-Castillo (10732576), Ana Argudo (10732579), Jose Luís Marín (10732582), Clara Carnicer (10732585), Rafael Artuch (435125), Frederic Tort (10732588), Laura Gort (10732591), Rosa Fernández (565282), Judit García-Villoria (568179), Antonia Ribes (10732594)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Biotechnology, Mental Health, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Vitamin B12 deficiency, Homocysteine, Methylmalonic acid, Methylcitric acid, Newborn screening, Second-tier test, Methylmalonic acidemia, Propionic acidemia, Homocystinuria

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Implementation_of_second-tier_tests_in_newborn_screening_for_the_detection_of_vitamin_B12_related_acquired_and_genetic_disorders_results_on_258_637_newborns/14524432Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14524432.v1Test