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: Huemer, Martina^{Aff1, Aff2, Aff3}, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean^{Aff1, Aff2}, Baumgartner, Matthias R.^{Aff1, Aff2}, Dionisi-Vici, Carlo^Aff4, the EHOD consortium, Alcalde Martin, C., Baethmann, M., Ballhausen, D., Blasco-Alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K. A., Couce, M. L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M. C., García Silva, M. T., Gaspar, A. M., Gautschi, M., González-Lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, M. C. H., Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A. M., Martins, E. G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-Giner, C., Ruiz Gómez, M. A., Santra, S., Schiff, M., Schwartz, I. V., Scholl-Bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J.^{Aff8, Aff52}, Weisfeld-Adams, J.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-19

المؤلفون: Quintana, E., Mayr, J. A., García Silva, M. T., Font, A., Tortoledo, M. A., Moliner, S., Ozaez, L., Lluch, M., Cabello, A., Ricoy, J. R., Koch, J., Ribes, A., Sperl, W., Briones, P.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2009 32(1):339-343

المؤلفون: García-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., del Pozo, J. Sanchez, Herreros, M. Martí, Simón, R., Maties, M., Hernández, E. Martín, Hennet, T., Briones, P.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2004 27(5):591-600

المؤلفون: Muñoz, A., Mateos, F., Simón, R., García-Silva, M. T., Cabello, A., Arenas, J.

المصدر: Neuroradiology: A Journal Devoted to Neuroimaging and Interventional Neuroradiology. December 1999 41(12):920-928

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: García Silva, M. T., de Castro, J., Stibler, H., Simón, R., Chasco Yrigoyen, A., Mateos, F., Ferrer, I., Madero, S., Velasco, J. M., Guttierrez-Larraya, F.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. March 1996 19(2):257-259

المؤلفون: Martín, M. A., Campos, Y., García-Silva, M. T., Rubio, J. C., Del Hoyo, P., de Bustos, F., García, A., Arenas, J.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 1999 22(8):939-940

المؤلفون: Martínez, G., Ribes, A., Briones, P., Rodés, M., Baldellou, A., Pineda, M., Rodrigo, C., Lorente, I., García-Silva, M. T., Riudor, E., Jaraba, P., Lopez-Casas, J., Nuñez-Roldan, A.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. August 1998 21(6):693-694

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