المؤلفون: Mastantuono, E, Repp, B, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJ, Scurr, I, De Coo, IF, Moroni, I, Smet, J, Mayr, JA, De Meirleir, L, Schuelke, M, Zeviani, M, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Strom, TM, Herberg, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S

العلاقة: https://ora.ox.ac.uk/objects/uuid:caee25dd-92af-4105-985d-f9cbd48ddd01Test; https://doi.org/10.1038/s41431-019-0404-7Test

الإتاحة: https://doi.org/10.1038/s41431-019-0404-7Test
https://ora.ox.ac.uk/objects/uuid:caee25dd-92af-4105-985d-f9cbd48ddd01Test

المؤلفون: Nardocci, N., Morbin, M., Bugiani, M., Lamantea, E., Bugiani, O.

المصدر: Neurological Sciences; Sep2000 Supplement 1, Vol. 21, pS57, 5p, 3 Charts

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, CLINICAL biochemistry

المؤلفون: Parini, R., Menni, F., Garavaglia, B., Fesslova, V., Melotti, D., Massone, M. L., Lamantea, E., Rimoldi, M., Vizziello, P., Gatti, R.

المصدر: European Journal of Pediatrics; 1998, Vol. 157 Issue 12, p992-995, 4p

مصطلحات موضوعية: DEHYDROGENASES, CARDIOMYOPATHIES, MUSCLE diseases, MYOGLOBINURIA, JUVENILE diseases

المؤلفون: Ribes, A., Riudor, E., Garavaglia, B., Martinez, G., Arranz, A., Invernizzi, F., Briones, P., Lamantea, E., Sentís, M., Barceló, A., Roig, M., Sentís, M, Barceló, A

المصدر: European Journal of Pediatrics; 1998, Vol. 157 Issue 4, p317-320, 4p

مصطلحات موضوعية: DISEASES in twins, MUSCLE hypotonia, ORGANIC acids, DEHYDROGENASES