Roberto De Giorgio, Loris Pironi, Rita Rinaldi, Elisa Boschetti, Leonardo Caporali, Mariantonietta Capristo, Carlo Casali, Giovanna Cenacchi, Manuela Contin, Roberto D’Angelo, Antonietta D’Errico, Laura Ludovica Gramegna, Raffaele Lodi, Alessandra Maresca, Susan Mohamed, Maria Cristina Morelli, Valentina Papa, Caterina Tonon, Vitaliano Tugnoli, Valério Carelli, Roberto D’Alessandro, Antonio Daniele Pinna,
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely ...
Tópico(s): Glycogen Storage Diseases and Myoclonus
2016 - Wiley | Annals of Neurology