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Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by thymidine phosphorylase (TP) enzyme defect. As gastrointestinal changes do not revert in patients undergone TP replacement therapy, one can postulate that other unexplored mechanisms contrib...

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Опубликовано в: :Am J Physiol Gastrointest Liver Physiol
Главные авторы: Boschetti, Elisa, D’Angelo, Roberto, Tardio, Maria Lucia, Costa, Roberta, Giordano, Carla, Accarino, Anna, Malagelada, Carolina, Clavenzani, Paolo, Tugnoli, Vitaliano, Caio, Giacomo, Righi, Valeria, Garone, Caterina, D'Errico, Antonietta, Cenacchi, Giovanna, Dotti, Maria Teresa, Stanghellini, Vincenzo, Sternini, Catia, Pironi, Loris, Rinaldi, Rita, Carelli, Valerio, De Giorgio, Roberto
Формат: Artigo
Язык:Inglês
Опубликовано: American Physiological Society 2021
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8202202/
https://ncbi.nlm.nih.gov/pubmed/33655764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpgi.00047.2021
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