المؤلفون: Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo

المصدر: JIMD Reports ; volume 63, issue 2, page 146-161 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12265Test

المؤلفون: Bellusci, Marcello, García‐Silva, Maria Teresa, Martínez de Aragón, Ana, Martín, Miguel Angel

المصدر: JIMD Reports ; volume 62, issue 1, page 3-5 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12216Test

المؤلفون: Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, Morales Conejo, Montserrat

المساهمون: BioMarin Pharmaceuticals España SL

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-021-02074-yTest

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: Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith, Aguirre, Francisco Javier, Aleu, Montserrat, Alonso, Xènia, Alsius, Mercè, Amorós, Maria Inmaculada, Antiñolo, Guillermo, Aquino, Lourdes, Arellano, Carmen, Arriola, Gema, Arteaga, Rosa, Baena, Neus, Barcos, Montserrat, Belzunces, Nuria, Boronat, Susana, Camacho, Tomás, Campistol, Jaume, Campo, Miguel del, Campo, Andrea, Candau, Ramon, Canós, Ignacio, Carrascosa, María del Carmen, Carratalá-Marco, Francisco, Casano, Jovaní, Castro, Pedro, Cobo, Ana, Colomer, Jaime, Conejo, David, Corrales, Maria José, Cortés, Rocío, Cruz, Gabriel, Csányi, Gábor, Santos, María Teresa de, Toledo, María de, Campo, Miguel Del, Toro, Mireia Del, Domingo, Rosario, Duat, Anna, Duque, Rosario, Esparza, Ana María, Fernández, Rosa, Fons, Maria Carme, Fontalba, Ana, Galán, Enrique, Gallano, Pia, Gamundi, María José, García, Pedro Luis, García, María del Mar, García-Barcina, María, Garcia-Catalan, María Jesús, García-Cazorla, Ángels, García-Miñaur, Sixto, Garcia-Peñas, Juan Jose, García-Silva, María Teresa, Gassio, Rosa, Geán, Esther, Gil, Belén, Gökben, Sarenur, Gonzalez, Luis, Gonzalez, Veronica, Gonzalez, Julieta, González, Gloria, Guillén, Encarna, Guitart, Miriam, Guitet, Montserrat, Gutierrez, Juan Manuel, Gutiérrez, Eva, Herranz, Jose Luís, Iglesias, Gemma, Karacic, Iva, Lahoz, Carlos H., Lao, José Ignacio, Lapunzina, Pablo, Lautre-Ecenarro, María Jesús, Lluch, María Dolores, López, Laura, López-Ariztegui, Asunción, Macaya, Alfons, Marín, Rosario, Marquez, Charles M. Lourenço, Martín, Elena, Martínez, Beatriz, Martínez-Salcedo, Eduardo, Mas, María José, Mateo, Gonzalo, Mendez, Pilar, Jimenez, Amparo Morant, Moreno, Sira, Mulas, Fernando, Narbona, Juan, Nascimento, Andrés, Nieto, Manuel, Nunes, Tania Fabiola, Núñez, Núria, Obón, María, Onsurbe, Ignacio, Ortez, Carlos Ignacio, Orts, Emilio, Martinez, Francisco, Parrilla, Rafael, Pascual, Samuel Ignacio, Patiño, Ana, Pérez-Poyato, Maria, Pérez-Dueñas, Belén, Póo, Pilar, Puche, Eliodoro, Ramos, Feliciano, Raspall, Miquel, Roche, Ana, Roldan, Susana, Rosell, Jordi, Ruiz, Cesar, Ruiz-Falcó, María Luz, Russi, Maria Eugenia, Samarra, Jordi, Antonio, Victoria San, Sanchez, Ivan, Sanmartin, Xavier, Sans, Ana, Santacana, Alfredo, Scholl-Bürgi, Sabine, Serrano, Nuria, Serrano, Mercedes, Martin-Tamayo, Pilar, Tendero, Adrián, Torrents, Jaime, Tortosa, Diego, Triviño, Emma, Troncoso, Ledia, Turón, Eulàlia, Vázquez, Pilar, Vázquez, Carlos, Velázquez, Ramón, Ventura, Clara, Verdú, Alfonso, Vernet, Anna, Vila, M. Tomás, Villar, Cristina

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1038/s41598-019-48385-wTest; Scientific Reports. 2019; 19;9 (1):11983; https://uvadoc.uva.es/handle/10324/64713Test; Scientific Reports

الإتاحة: https://doi.org/10.1038/s41598-019-48385-wTest
https://uvadoc.uva.es/handle/10324/64713Test

المؤلفون: Navarrete, Rosa, Leal, Fátima, Vega, Ana I, Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R, Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén

مصطلحات موضوعية: Exome, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Newborn, Lipid Metabolism, Inborn Errors, Metabolism, Mutation, Neonatal Screening, Spain, Exome Sequencing

العلاقة: http://hdl.handle.net/10668/13404Test; PMC6460639; https://www.nature.com/articles/s41431-018-0330-0.pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/pdfTest

الإتاحة: https://doi.org/10.1038/s41431-018-0330-0Test
http://hdl.handle.net/10668/13404Test
https://www.nature.com/articles/s41431-018-0330-0.pdfTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/pdfTest

المؤلفون: Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R, Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar

مصطلحات موضوعية: RNA analysis, antisense therapy for mitochondrial disorders, clinical-exome sequencing, congenital lactic acidosis, healthcare, metabolomics datasets, mitochondrial dysfunction, mitochondrial morphology

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/14628Test; PMC6912785; https://www.mdpi.com/2077-0383/8/11/1811/pdf?version=1572594497Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912785/pdfTest

الإتاحة: https://doi.org/10.3390/jcm8111811Test
http://hdl.handle.net/10668/14628Test
https://www.mdpi.com/2077-0383/8/11/1811/pdf?version=1572594497Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912785/pdfTest

المؤلفون: Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith, Aguirre, Francisco Javier, Aleu, Montserrat, Alonso, Xènia, Alsius, Mercè, Inmaculada Amorós, Maria, Antiñolo, Guillermo, Aquino, Lourdes, Arellano, Carmen, Arriola, Gema, Arteaga, Rosa, Baena, Neus, Barcos, Montserrat, Belzunces, Nuria, Boronat, Susana, Camacho, Tomás, Campistol, Jaume, del Campo, Miguel, Campo, Andrea, Candau, Ramon, Canós, Ignacio, Carrascosa, María del Carmen, Carratalá-Marco, Francisco, Casano, Jovaní, Castro, Pedro, Cobo, Ana, Colomer, Jaime, Conejo, David, Corrales, Maria José, Cortés, Rocío, Cruz, Gabriel, Csányi, Gábor, de Santos, María Teresa, de Toledo, María, Toro, Mireia Del, Domingo, Rosario, Duat, Anna, Duque, Rosario, Esparza, Ana María, Fernández, Rosa, Fons, Maria Carme, Fontalba, Ana, Galán, Enrique, Gallano, Pia, Gamundi, María José, García, Pedro Luis, García, María del Mar, García-Barcina, María, Garcia-Catalan, María Jesús, García-Miñaur, Sixto, Garcia-Peñas, Juan Jose, García-Silva, María Teresa, Gassio, Rosa, Geán, Esther, Gil, Belén, Gökben, Sarenur, Gonzalez, Luis, Gonzalez, Veronica, Gonzalez, Julieta, González, Gloria, Guillén, Encarna, Guitart, Miriam, Guitet, Montserrat, Gutierrez, Juan Manuel, Gutiérrez, Eva, Herranz, Jose Luís, Iglesias, Gemma, Karacic, Iva, Lahoz, Carlos H., Lao, José Ignacio, Lapunzina, Pablo, Lautre-Ecenarro, María Jesús, Lluch, María Dolores, López, Laura, López-Ariztegui, Asunción, Macaya, Alfons, Marín, Rosario, Marquez, Charles M. Lourenço, Martín, Elena, Martínez, Beatriz, Martínez-Salcedo, Eduardo, Mas, María José, Mateo, Gonzalo, Mendez, Pilar, Jimenez, Amparo Morant, Moreno, Sira, Mulas, Fernando, Narbona, Juan, Nascimento, Andrés, Nieto, Manuel, Nunes, Tania Fabiola, Núñez, Núria, Obón, María, Onsurbe, Ignacio, Ortez, Carlos Ignacio, Orts, Emilio, Martinez, Francisco, Parrilla, Rafael, Pascual, Samuel Ignacio, Patiño, Ana, Pérez-Poyato, Maria, Pérez-Dueñas, Belén, Póo, Pilar, Puche, Eliodoro, Ramos, Feliciano, Raspall, Miquel, Roche, Ana, Roldan, Susana, Rosell, Jordi, Ruiz, Cesar, Ruiz-Falcó, María Luz, Russi, Maria Eugenia, Samarra, Jordi, Antonio, Victoria San, Sanchez, Ivan, Sanmartin, Xavier, Sans, Ana, Santacana, Alfredo, Scholl-Bürgi, Sabine, Serrano, Nuria, Serrano, Mercedes, Martin-Tamayo, Pilar, Tendero, Adrián, Torrents, Jaime, Tortosa, Diego, Triviño, Emma, Troncoso, Ledia, Turrón, Eulalia, Vázquez, Pilar, Vázquez, Carlos, Velázquez, Ramón, Ventura, Clara, Verdú, Alfonso, Vernet, Anna, Vila, M. Tomás, Villar, Cristina, Cancho, Ramon

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1038/s41598-017-11620-3Test; Scientific Reports. 25 sept 2017 5;7(1):12288; https://uvadoc.uva.es/handle/10324/64712Test; Scientific Reports

الإتاحة: https://doi.org/10.1038/s41598-017-11620-3Test
https://uvadoc.uva.es/handle/10324/64712Test

المؤلفون: Iwanicka-Pronicka, Katarzyna, Seders, Martine, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Maas, Roeltje R., Alhaddad, Bader, AlSayed, Moeenaldeen, Al-Owain, Mohammed A., Al-Zaidan, Hamad I., Balasubramaniam, Shanti, Baric, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hoerster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs-Nagy, Reka, Krumina, Zita, Martin-Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B., Ucar, Sema Kalkan

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Neurology; https://doi.org/10.1002/ana.25110Test; https://hdl.handle.net/11454/31464Test; 82; 1004; 1015

الإتاحة: https://doi.org/10.1002/ana.25110Test
https://hdl.handle.net/11454/31464Test

المؤلفون: Maas, Roeltje R., Iwanicka-Pronicka, Katarzyna, Ucar, Sema Kalkan, Alhaddad, Bader, AlSayed, Moeenaldeen, Al-Owain, Mohammed A., Al-Zaidan, Hamad I., Balasubramaniam, Shanti, Baric, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hoerster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs-Nagy, Reka, Krumina, Zita, Martin-Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.

المساهمون: Ege Üniversitesi

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Neurology; https://doi.org/10.1002/ana.25110Test; https://hdl.handle.net/11454/31464Test; 82; 1004; 1015

الإتاحة: https://doi.org/10.1002/ana.25110Test
https://hdl.handle.net/11454/31464Test