Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

Castiglioni, C; Verrigni, D; Okuma C.; Diaz A.; Alvarez, K; Rizza, T; Carrozzo, R; Bertini, E; Miranda, M

Keywords: Pyruvate dehydrogenase deficiency, Paroxysmal exercise-induced dystonia, Brain MRS, Thiamine-responsive dystonia

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Título según WOS: Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Título según SCOPUS: Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Título de la Revista: European Journal of Paediatric Neurology
Volumen: 19
Número: 5
Editorial: W.B. Saunders Ltd
Fecha de publicación: 2015
Página de inicio: 497
Página final: 503
Idioma: English
DOI:

10.1016/j.ejpn.2015.04.008

Notas: ISI, SCOPUS