by Pessoa, A. L. S, Martins, A. M, Ribeiro, E. M, Specola, N, Chiesa, A, Vilela, D, Jurecki, E, Mesojedovas, D, Schwartz, I. V. D
Published in Orphanet journal of rare diseases (30.07.2022)

by Pérez, Belén, Angaroni, Celia, Sánchez-Alcudia, Rocio, Merinero, Begoña, Pérez-Cerdá, Celia, Specola, N, Rodríguez-Pombo, P, Wajner, Moacir, de Kremer, Raquel Dodelson, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena
Published in Journal of inherited metabolic disease (01.10.2010)

by Amartino, H, Ceci, R, Masllorens, F, Gal, A, Arberas, C, Bay, L, Ilari, R, Dipierri, J, Specola, N, Cabrera, A, Rozenfeld, P
Published in Molecular genetics and metabolism reports (01.01.2014)

by De Meirleir, L., Specola, N., Seneca1, S., Lissens, W.
Published in Journal of inherited metabolic disease (01.06.1998)

by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.
Published in The Journal of pediatrics (01.12.2021)

by Bonnefont, J P, Specola, N B, Vassault, A, Lombes, A, Ogier, H, de Klerk, J B, Munnich, A, Coude, M, Paturneau-Jouas, M, Saudubray, J M
Published in European journal of pediatrics (01.12.1990)

by Specola, N, Vanier, M T, Goutières, F, Mikol, J, Aicardi, J
Published in Neurology (01.01.1990)

by Chamoles, N A, Blanco, M B, Iorcansky, S, Gaggioli, D, Spécola, N, Casentini, C
Published in Clinical chemistry (Baltimore, Md.) (01.11.2001)

by Saudubray, J M, Ogier, H, Bonnefont, J P, Munnich, A, Lombes, A, Hervé, F, Mitchel, G, Thé, B P, Specola, N, Parvy, P
Published in Journal of inherited metabolic disease (01.03.1989)

by Abdenur, Jose E., Abeling, Nico, Specola, Norma, Jorge, Lia, Schenone, Andrea B., van Cruchten, Arno C., Chamoles, Nestor A.
Published in Molecular genetics and metabolism (2006)

by Saudubray, J M, Specola, N, Middleton, B, Lombes, A, Bonnefont, J P, Jakobs, C, Vassault, A, Charpentier, C, Day, R
Published in Enzyme (Basel) (01.01.1987)

by Abdenur, J E, Chamoles, N A, Specola, N, Schenone, A B, Jorge, L, Guinle, A, Bernard, C I, Levandowskiy, V, Lavorgna, S
Published in Advances in experimental medicine and biology (1999)

by Chevrie, J J, Specola, N, Aicardi, J
Published in Journal of neurology, neurosurgery and psychiatry (01.05.1988)

by Saudubray, J M, Ogier, H, Bonnefont, J P, Munich, A, Lombes, A, Hervé, F, Mitchel, G, Poll The, B, Specola, N, Parvy, B
Published in Československá pediatrie (01.01.1990)

by Herrero, M, Trobo, E, Specola, N, Molina, H A, Taratuto, A
Published in Medicina (Buenos Aires) (1985)