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Safety and efficacy of erythrocyte encapsulated thymidine phosphorylase in mitochondrial neurogastrointestinal encephalomyopathy

Abstract:

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 ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.3390/jcm8040457

Authors


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Role:
Author
ORCID:
0000-0003-3052-422X
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Women’s and Reproductive Health
Role:
Author
ORCID:
0000-0002-2460-5587
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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:
2077-0383
Pubs id:
pubs:992425
URN:
uri:a725ef35-9563-41a5-a018-b5025e56a4e7
UUID:
uuid:a725ef35-9563-41a5-a018-b5025e56a4e7
Local pid:
pubs:992425

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