المؤلفون: Cortès i Saladelafont, Elisenda

المساهمون: University/Department: Universitat de Barcelona. Departament d'Obstetrícia i Ginecologia, Pediatria i Radiologia i Medicina Física

مرشدي الرسالة: García Cazorla, Àngels, Jordán García, Iolanda

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Neurotransmissors, Neurotransmisores, Neurotransmitters, Neurotransmissió, Neurotransmisión, Neural transmission, Neurobiologia del desenvolupament, Neurobiología del desarrollo, Developmental neurobiology, Metabolisme, Metabolismo, Metabolism, Ciències de la Salut

الوقت: 616.8

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/669894Test

المؤلفون: Castells, Aina-Alba, Balada, Rafel, Tristán Noguero, Alba, O’Callaghan, Mar, Cortès i Saladelafont, Elisenda, Pascual Alonso, Ainhoa, Garcia Cazorla, Àngels, Armstrong, Judith, Alcántara Horrillo, Soledad

المصدر: Articles publicats en revistes (Patologia i Terapèutica Experimental)

مصطلحات موضوعية: Síndrome de Rett, Marcadors bioquímics, Rett syndrome, Biochemical markers

وصف الملف: 22 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.3390/biomedicines9020148Test; Biomedicines, 2021, vol. 9, num. 2; https://doi.org/10.3390/biomedicines9020148Test; http://hdl.handle.net/2445/175824Test

الإتاحة: https://doi.org/10.3390/biomedicines9020148Test
http://hdl.handle.net/2445/175824Test

المؤلفون: Castells, Aina-Alba, Gueraldi, Daniela, Balada Caballé, Rafael, Tristán Noguero, Alba, Cortès i Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, Maria Luz, Sierra, Cristina, Ormazabal Herrero, Aida, Batllori, Marta, Artuch Iriberri, Rafael, Armstrong, Judith, Alcántara Horrillo, Soledad, Garcia-Cazorla, Àngels

المصدر: Articles publicats en revistes (Patologia i Terapèutica Experimental)

مصطلحات موضوعية: Errors congènits del metabolisme, Aminoàcids, Neuropsiquiatria, Lesions cerebrals, Inborn errors of metabolism, Amino acids, Neuropsychiatry, Brain damage

وصف الملف: 14 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1038/s41598-019-45674-2Test; Scientific Reports, 2019, vol. 9, p. 9128; https://doi.org/10.1038/s41598-019-45674-2Test; http://hdl.handle.net/2445/162604Test; 695906

الإتاحة: https://doi.org/10.1038/s41598-019-45674-2Test
http://hdl.handle.net/2445/162604Test

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi‐Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean‐Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco‐Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos‐Morell, Guillem, Pena‐Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl‐Bürgi, Sabine, Sokal, Etienne

المصدر: Journal of Inherited Metabolic Disease ; volume 38, issue 6, page 1157-1158 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-015-9868-yTest

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiří, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Boy, S P Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L, De Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzík, Tomáš, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, De Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C, Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Lund, Allan M, Garcia-Cazorla, Angeles, Garcia Cazorla, Angeles

المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, Other departments, Pediatrics

المصدر: Journal of inherited metabolic disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease, 38(6), 1059-1074. Springer Netherlands
Journal of Inherited Metabolic Disease, 38(6), 1059-1074. Springer Netherlands

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Propionic Acidemia, Urea cycle disorder, Adolescent, Argininosuccinic Aciduria, Kaplan-Meier Estimate, Biology, Bioinformatics, Disease course, Young Adult, Neonatal Screening, Genetics, medicine, Humans, Glutaryl-CoA dehydrogenase deficiency, Registries, Clinical phenotype, Child, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders, Inborn, Genetics (clinical), Aged, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, Newborn, nutritional and metabolic diseases, Infant, Optic nerve atrophy, Middle Aged, medicine.disease, Phenotype, 3. Good health, Ornithine Carbamoyltransferase Deficiency Disease, Europe, Biochemistry, Liver, Urea cycle, Child, Preschool, Chronic renal failure, Kidney Failure, Chronic, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a51bce13d144218341e97b7e2e3d86Test

المؤلفون: Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Baric, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., Cortes I Saladelafont, Elisenda, Karall, Daniela, Muehlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Koelker, Stefan, Aksglaede,Lise, Avram,Paula, Balmaseda-Serrano,Elena, Bauchart,Eric, Blasco-A lonso,Javier, Brassier,Anaïs, Chakrapani,Anupam, Yin-Hsiu, Chien, Couce,Maria L., de Laet,Corinne, de Lonlay,Pascale, de Meirleir,Linda, Dionisi-Vici,Carlo, Dobbelaere,Dries, Garcia-Cazorla,Angeles, Gleich,Florian, Gradowska,Wanda, Grünewald,Stephanie, Haege,Gisela, Häberle,Johannes, Wuh-Liang, Hwu, Harikleia, Ioannou, Lachmann,Robin, Langereis,Eveline, Leão Teles,Elisa, López-Laso,Eduardo, Matsumoto,Shirou, de Baulny,Hélène Ogier, Ortez,Carlos, Peña Quintana, Luis, Ruiz-Gomez,Angeles, Sarajlija,Adrijan, Summar,Marshall L., Thompson,Nicholas, Vara,Roshni, Vives Pinera,Inmaculada, Williams,Monique, Zielonka, Matthias

المساهمون: 3516766, 101583, 240823, 51188, 246889, 361943, 43561, 235706, 18275, 8826250, 6229865, 316699, 636273, 7074809, 30764, 431926, 208433, 29658007, 67797, 161957, WOS:Heringer, J, WOS:Valayannopoulos, V, WOS:Lund, AM, WOS:Wijburg, FA, WOS:Freisinger, P, WOS:Baric, I, WOS:Baumgartner, MR, WOS:Burgard, P, WOS:Burlina, AB, WOS:Chapman, KA, WOS:Saladelafont, ECI, WOS:Karall, D, WOS:Muhlhausen, C, WOS:Riches, V, WOS:Schiff, M, WOS:Sykut-Cegielska, J, WOS:Walter, JH, WOS:Zeman, J, WOS:Chabrol, B, WOS:Kolker, S, BU-MED

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 39 (3), p. 341-353, (Mayo 2016)

مصطلحات موضوعية: 32 Ciencias médicas, 241108 Metabolismo humano, Coa Dehydrogenase-Deficiency, Propionic Acidemia, Methylmalonic Acidurias, Phenotypic Spectrum, Isovaleric Acidemia, Natural-History, Management, Children, Individuals

العلاقة: Journal of Inherited Metabolic Disease; 39; WoS; http://hdl.handle.net/10553/73957Test; 000375567300003; Sí

الإتاحة: https://doi.org/10.1007/s10545-015-9907-8Test
http://hdl.handle.net/10553/73957Test

المؤلفون: Kölker, Stefan, Garcia Cazorla, Angeles, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthiais R, Blasco-Alonso, Javier, Chabrol, Brigitte, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Lachmann, Robin

المساهمون: UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

المصدر: Journal of Inherited Metabolic Disease, (2015)

العلاقة: boreal:158559; http://hdl.handle.net/2078.1/158559Test; info:pmid/25875215; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الإتاحة: https://doi.org/10.1007/s10545-015-9839-3Test
http://hdl.handle.net/2078.1/158559Test

المؤلفون: Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Baric, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., Cortes i Saladelafont, Elisenda, Karall, Daniela, Muehlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Koelker, Stefan, E-IMD Consortium

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 41 (4), p. 741-742

مصطلحات موضوعية: 32 Ciencias médicas

العلاقة: Journal of Inherited Metabolic Disease; http://hdl.handle.net/10553/42089Test; 2-s2.0-85037736855; 742; 741; 41; WOS:000438443200017

الإتاحة: https://doi.org/10.1007/s10545-017-0116-5Test
http://hdl.handle.net/10553/42089Test

المؤلفون: Kölker, Stefan, García Cazorla, Angeles, 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, Cortès i Saladelafont, Elisenda, 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, Ogier de Baulny, Hélène, Ortez, Carlos, Peña-Quintana, Luis, Petković Ramadža, Danijela, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Vives Pinera, Inmaculada, Walter, John H., Williams, Monique, Burgard, Peter

المساهمون: 7004458958, 56596429000, 6507114277, 57205452039, 57202189512, 35894644700, 57204641431, 57204641427, 7003454408, 57215789626, 57194322144, 7101979492, 7006329633, 55197502200, 15822540900, 6506211042, 15764518100, 23059548100, 12807843600, 7101704024, 57210776027, 56071203200, 7006531746, 56215240800, 57205589940, 57205589935, 49863126500, 57209266227, 56596813800, 7003683107, 7003741746, 7005945963, 57093768200, 36972630700, 56155847800, 6603291594, 7005299518, 6603103813, 7003808409, 36623631500, 7003596979, 24474518700, 54388352300, 7004636338, 36163327600, 7404266264, 16837114500, 6602190540, 35096536300, 6603266503, 26436064300, 7102572626, 23010169300, 35380002300, 57194322361, 7003497387, 57203426455, 18435394300, 57208699708, 56596672300, 35461752100, 57200399540, 6603827252, 161957, 2944289, 101583, 240823, 18275, 431926, 51188, 1144405, 29658007, 843028, 361943, 316699, 1783161, 466226, 642281, 5254345, 34981328, 2180187, 67797, 157768, 8826250, 6229865, 30356179, 105686, 483798, 770230, 553224, 5104704, 1160444, 322307, 2497500, 166355, 1804234, 184108, 3181731, 2128922, 33627

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955],v. 38 (6), p. 1155-1156, (Noviembre 2015)

مصطلحات موضوعية: 3201 Ciencias clínicas

العلاقة: Journal of Inherited Metabolic Disease; 38; WoS; http://hdl.handle.net/10553/49351Test; 84945472442; 000363980800016

الإتاحة: https://doi.org/10.1007/s10545-015-9867-zTest
http://hdl.handle.net/10553/49351Test