المؤلفون: Keller, R, Chrastina, P, Pavlikova, M, Gouveia, S, Ribes, A, Kolker, S, Blom, HJ, Baumgartner, MR, Bartl, J, Dionisi-Vici, C, Gleich, F, Morris, AA, Kozich, V, Huemer, M, Baric, I, Ben-Omran, T, Blasco-Alonso, J, Delgado, MA, Carducci, C, Cassanello, M, Cerone, R, Couce, ML, Crushell, E, Pecellin, CD, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Jimenez, IG, Gallego, IG, Gonzalez-Irazabal, Y, Gramer, G, Fita, MJJ, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Teles, EL, Leuzzi, V, Lilliu, F, Lopez, RM, Lund, AM, Mayne, P, Meavilla, S, Moat, SJ, Okun, JG, Pasquini, E, Pedron-Giner, CC, Racz, GZ, Gomez, MAR, Vilarinho, L, Yahyaoui, R, Tansek, MZ, Zetterstrom, RH, Zeyda, M

المصدر: Journal of inherited metabolic disease. 42(1):128-139

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140235248

المؤلفون: Merinero, B.^Aff1, Alcaide, P.^Aff1, Martín-Hernández, E.^Aff2, Morais, A.^Aff3, García-Silva, M. T.^Aff2, Quijada-Fraile, P.^Aff2, Pedrón-Giner, C.^Aff4, Dulin, E.^Aff5, Yahyaoui, R.^Aff6, Egea, J. M.^Aff7, Belanger-Quintana, A.^Aff8, Blasco-Alonso, J.^Aff9, Fernandez Ruano, M. L.^Aff5, Besga, B.^Aff5, Ferrer-López, I.^Aff1, Leal, F.^Aff1, Ugarte, M.^Aff1, Ruiz-Sala, P.^Aff1, Pérez, B.^Aff1, Pérez-Cerdá, C.^Aff1

المساهمون: Morava, Eva, editor^Aff11, Baumgartner, Matthias, editor^Aff12, Patterson, Marc, editor^Aff13, Rahman, Shamima, editor^Aff14, Zschocke, Johannes, editor^Aff15, Peters, Verena, editor^Aff16

المصدر: JIMD Reports, Volume 39. 39:63-74

المؤلفون: Keller, R.^{Aff1, Aff2}, Chrastina, P., Pavlíková, M.^{Aff3, Aff4}, Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R.^{Aff1, Aff2}, Bártl, J., Dionisi Vici, C., Gleich, F., Morris, A. A., Kožich, V.^Aff3, Huemer, M.^{Aff1, Aff2, Aff11}, and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R.^{Aff1, Aff23}, Garcia Jimenez, I., Gonzalez Gallego, I., González-Irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., la Marca, G.^{Aff30, Aff31}, Leão Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-Giner, C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterström, R. H.^{Aff44, Aff45}, Zeyda, M.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-12

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المؤلفون: Lledo-Garcia, E., Rodriguez-Martinez, D., Cabello-Benavente, R., Moncada-Iribarren, I., Tejedor-Jorge, A., Dulin, E., Hernandez-Fernandez, C., Del Canizo-Lopez, J.F.

المصدر: In Transplantation Proceedings 2007 39(5):1354-1356

المؤلفون: Merinero, B, Alcaide, P, Martín-Hernández, E, Morais, A, García-Silva, M T, Quijada-Fraile, P, Pedrón-Giner, C, Dulin, E, Yahyaoui, R, Egea, J M, Belanger-Quintana, A, Blasco-Alonso, J, Fernandez Ruano, M L, Besga, B, Ferrer-López, I, Leal, F, Ugarte, M, Ruiz-Sala, P, Pérez, B, Pérez-Cerdá, C

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Newborn screening, lipids (amino acids, peptides, and proteins), ACADVL mutations, Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD enzyme activity

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f53c5bbafc313860cb9c6f536c0543c7
https://hdl.handle.net/20.500.12530/39096

المؤلفون: Parellada, M., Llorente, C., Calvo, R., Gutierrez, S., Lázaro, L., Graell, M., Alvarez, M., Guisasola, M., Dulin, E., Dorado, M.L., Romo, J., Arango, C., Moreno, C.

المصدر: In European Neuropsychopharmacology September 2015 25 Supplement 2:S138-S138

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المؤلفون: Moron-Nozaleda, M.G., Álvarez-Blázquez, M., Díaz-Caneja, C.M., Dulin, E., Moreno, C., Guisasola, M.C., Arango, C., Parellada, M.

المصدر: In European Neuropsychopharmacology March 2013 23 Supplement 1:S91-S91