Article
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2016
D'Angelo Roberto, Rinaldi Rita, Carelli Valerio, Boschetti Elisa, Caporali Leonardo, Capristo Mariantonietta, Casali Carlo, Cenacchi Giovanna, Gramegna Laura Ludovica, Lodi Raffaele, Pinna Antonio Daniele, Pironi Loris, Stanzani Marta, Tonon Caterina, D'Alessandro Roberto, De Giorgio Roberto
Abstract excerpt
Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better...
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