• 22542 Citations
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1978 …2019
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Research Output 1978 2019

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Conference contribution
2009
5 Citations (Scopus)

Mitochondrial encephalomyopathies and related syndromes: Brief review

Bertini, E. & D'Amico, A., 2009, Endocrine Development. Vol. 14. p. 38-52 15 p. (Endocrine Development; vol. 14).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Mitochondrial Encephalomyopathies
Inborn Genetic Diseases
Genetic Heterogeneity
Medicine
Muscles
2006
10 Citations (Scopus)

N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease

Burlina, A. P., Ferrari, V., Burlina, A. B., Ermani, M., Boespflug-Tanguy, O., Bertini, E., Baethmann, M., Gärtner, J., Hanefeld, F., Kohlschutter, A., Lopez-Terradas, J. M., Peudenier, S., Prats-Vinas, J. M., Rodriguez, D., Surtees, R., Uziel, G., Vallee, L. & Voit, T., 2006, Advances in Experimental Medicine and Biology. Springer New York, Vol. 576. p. 353-359 7 p. (Advances in Experimental Medicine and Biology; vol. 576).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1990

Follow-up of patients with adrenoleukodystrophy during GTO-GTE supplementation and dietary therapy

Bertini, E., Uziel, G., Di Capua, M., Fariello, G. & Bartolomeo, S., 1990, Adrenoleukodystrophy and other peroxisomal disorders. Clinical, biochemical, genetic and therapeutic aspects: proceedings of the International workshop. ICS898. Uziel, G., Wanders, R. J. A., Cappa, M., Uziel, G., Wanders, R. J. A. & Cappa, M. (eds.). Elsevier Science Publishers B.V., p. 195-203 9 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

13 Citations (Scopus)

Italian multicentric dietary therapeutical trial in adrenoleukodystrophy

Uziel, G., Bertini, E., Rimoldi, M. & Gambetti, M., 1990, Adrenoleukodystrophy and other peroxisomal disorders. Clinical, biochemical, genetic and therapeutic aspects: proceedings of the International workshop. ICS898. Uziel, G., Wanders, R. J. A., Cappa, M., Uziel, G., Wanders, R. J. A. & Cappa, M. (eds.). Elsevier Science Publishers B.V., p. 163-180 18 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1989

EPILESSIA PARZIALE CONTINUA E DISPLASIA CORTICALE MULTIFOCALE

Translated title of the contribution: Epilepsia partialis continua and multifocal cortical dysplasiaFusco, L., Di Capua, M., Bertini, E., Ricci, S., Milani, L. & Vigevano, F., 1989, Bollettino - Lega Italiana contro l'Epilessia. 66-67 ed. p. 261-262 2 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Epilepsia Partialis Continua
Malformations of Cortical Development
Hemispherectomy
Neurosurgery
Encephalitis