Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations in the nuclear <i>TYMP</i> gene, which encodes for thymidine phosphorylase, an enzyme req...

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Bibliographic Details
Main Authors: Bridget E. Bax, Michelle Levene, Murray D. Bain, Lynette D. Fairbanks, Massimiliano Filosto, Sema Kalkan Uçar, Thomas Klopstock, Cornelia Kornblum, Hanna Mandel, Shamima Rahman, Agathe Roubertie, Mauro Scarpelli, Philip M. Sedgwick, Moshe Baru, Marcia Sellos-Moura, Jeanie Price, Patrick Horn, Niranjanan Nirmalananthan
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Journal of Clinical Medicine
Subjects:
mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
<i>TYMP</i>
enzyme replacement
erythrocyte encapsulated thymidine phosphorylase
thymidine phosphorylase
mitochondrial disease
rare disease
orphan disease
Phase II
multiple dose
Online Access:https://www.mdpi.com/2077-0383/8/8/1096

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https://www.mdpi.com/2077-0383/8/8/1096

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