- Abstract:
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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 (TYMP) 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, three ...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's Version
- Files:
-
-
(pdf, 9.7MB)
-
- Publisher copy:
- 10.3390/jcm8040457
-
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- Publisher:
- MDPI Publisher's website
- Journal:
- Journal of Clinical Medicine Journal website
- Volume:
- 8
- Issue:
- 4
- Pages:
- Article: 457
- Publication date:
- 2019-04-05
- Acceptance date:
- 2019-04-03
- DOI:
- EISSN:
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2077-0383
- Pubs id:
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pubs:992425
- URN:
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uri:a725ef35-9563-41a5-a018-b5025e56a4e7
- UUID:
-
uuid:a725ef35-9563-41a5-a018-b5025e56a4e7
- Local pid:
- pubs:992425
- Copyright holder:
- Levene et al.
- Copyright date:
- 2019
- Notes:
- © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Journal article
Safety and efficacy of erythrocyte encapsulated thymidine phosphorylase in mitochondrial neurogastrointestinal encephalomyopathy
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