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: Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François

المساهمون: Orphan Europe-Ricordati

المصدر: Orphanet Journal of Rare Diseases ; volume 14, issue 1 ; ISSN 1750-1172

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

الإتاحة: https://doi.org/10.1186/s13023-019-1036-2Test

المؤلفون: Martín-Rivada, Álvaro, Cambra Conejero, Ana, Martín-Hernández, Elena, Moráis López, Ana, Bélanger-Quintana, Amaya, Cañedo Villarroya, Elvira, Quijada-Fraile, Pilar, Bellusci, Marcelo, Chumillas Calzada, Silvia, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez-Pardo Casanova, Mercedes, Ruíz-Sala, Pedro, Ugarte, Magdalena, Pérez González, Belén, Pedrón-Giner, Consuelo

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 35, issue 10, page 1223-1231 ; ISSN 0334-018X 2191-0251

الإتاحة: https://doi.org/10.1515/jpem-2022-0340Test

المؤلفون: Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L, Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C, Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Martinez-Pardo Casanova, Mercedes, Molina, Agustin, Pichard, Samia, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam

مصطلحات موضوعية: Carglumic acid, Hyperammonaemia, OA decompensation episodes, Organic acidurias (OAs), Amino Acid Metabolism, Inborn Errors, Ammonia, Female, Glutamates, Humans, Hyperammonemia, Infant, Newborn, Male, Propionic Acidemia, Retrospective Studies, Treatment Outcome

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/9959Test; PMC4815113; https://doi.org/10.1186/s13023-016-0406-2Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815113/pdfTest

الإتاحة: https://doi.org/10.1186/s13023-016-0406-2Test
http://hdl.handle.net/10668/9959Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815113/pdfTest

المؤلفون: Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François

المساهمون: 6507114277, 7102067308, 6701600303, 37085496000, 35512818300, 6506343207, 24278814900, 7003683107, 7101901828, 6603266503, 35314017000, 56267949500, 6603581047, 7004318483, 6701782394, 7003899858, 25824898800, 7005945963, 7202412756, 6603819322, 12143257300, 6701361085, 32403161, 30764, 155567, 2080609, 34850613, 4534519, 1469234, 4394206, 2109389, 1012004, 102368, 1587918, 574176, 189632, 2290436, 1791783, 3701302, 483798, 2793385, 529318, 3768509, 363921, WOS:Valayannopoulos, V, WOS:Schiff, M, WOS:Guffon, N, WOS:Nadjar, Y, WOS:Garcia-Cazorla, A, WOS:Casanova, MMP, WOS:Cano, A, WOS:Couce, ML, WOS:Dalmau, J, WOS:Pena-Quintana, L, WOS:Rigalleau, V, WOS:Touati, G, WOS:Aldamiz-Echevarria, L, WOS:Cathebras, P, WOS:Eyer, D, WOS:Brunet, D, WOS:Damaj, L, WOS:Dobbelaere, D, WOS:Gay, C, WOS:Hieronimus, S, WOS:Levrat, V, WOS:Maillot, F

المصدر: Orphanet Journal Of Rare Diseases [ISSN 1750-1172], v. 14, (1), (Marzo 2019)

مصطلحات موضوعية: 241010 Fisiología humana, 320903 Evaluación de medicamentos, 3210 Medicina preventiva, Betaine Anhydrous, Efficacy, Homocystinuria, Roch Registry, Safety

العلاقة: Orphanet Journal of Rare Diseases; 14; Scopus; WoS; http://hdl.handle.net/10553/69845Test; 85062959248; 000461282500001

الإتاحة: https://doi.org/10.1186/s13023-019-1036-2Test
http://hdl.handle.net/10553/69845Test

المؤلفون: Stanescu, Sinziana, Belanger-Quintana, Amaya, Alcalde Martin, Carlos, Pérez-Cerdá Silvestre, Celia, Merinero Cortés, Begoña, Gonzalez Pérez, Belen, Fernández García-Abril, Carmen, Arrieta Blanco, Francisco, Palacios Valverde, Esperanza, Martínez-Pardo Casanova, Mercedes

المصدر: Case Reports in Pediatrics.

مصطلحات موضوعية: Article Subject

وصف الملف: text/xhtml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::ffa15f7c417ebf985f5c9abc50070be1Test

المؤلفون: Martínez-Pardo Casanova, Mercedes

المساهمون: Sols, Alberto, Universidad Autónoma de Madrid. Facultad de Medicina

مصطلحات موضوعية: Enzimas - Tesis doctorales

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10486/9579Test

الإتاحة: http://hdl.handle.net/10486/9579Test

المؤلفون: Stanescu, Sinziana Mihaela

المساهمون: Belanger Quintana, Amaya, Martínez-Pardo Casanova, Mercedes, Universidad de Alcalá. Departamento de Biología de Sistemas, Universidad de Alcalá. Programa de Doctorado en Ciencias de la Salud

مصطلحات موضوعية: Medicina, Pediatría, Medicine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______966::98ab43fa14fc6d65cadf898004ce9688Test
https://hdl.handle.net/10017/54311Test