Ontology highlight
ABSTRACT:
SUBMITTER: Levene M
PROVIDER: S-EPMC6517976 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Levene Michelle M Bain Murray D MD Moran Nicholas F NF Nirmalananthan Niranjanan N Poulton Joanna J Scarpelli Mauro M Filosto Massimiliano M Mandel Hanna H MacKinnon Andrew D AD Fairbanks Lynette L Pacitti Dario D Bax Bridget E BE
Journal of clinical medicine 20190405 4
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive disorder of nucleoside metabolism that is caused by mutations in the nuclear thymidine phosphorylase gene (<i>TYMP</i>) gene, encoding for the enzyme thymidine phosphorylase. There are currently no approved treatments for MNGIE. The aim of this study was to investigate the safety, tolerability, and efficacy of an enzyme replacement therapy for the treatment of MNGIE. In this single centre study, th ...[more]