Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.
MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy
TYMP
mitochondrial DNA
mitochondrial disease
thymidine phosphorylase
Journal
Journal of translational genetics and genomics
ISSN: 2578-5281
Titre abrégé: J Transl Genet Genom
Pays: United States
ID NLM: 101754424
Informations de publication
Date de publication:
30 Mar 2020
30 Mar 2020
Historique:
entrez:
11
9
2020
pubmed:
12
9
2020
medline:
12
9
2020
Statut:
ppublish
Résumé
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in
Identifiants
pubmed: 32914088
doi: 10.20517/jtgg.2020.08
pmc: PMC7116056
mid: EMS94412
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1-16Subventions
Organisme : Medical Research Council
ID : G0902179
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K025406/1
Pays : United Kingdom
Déclaration de conflit d'intérêts
Conflicts of interest The author’s Institution, St George’s, University of London holds a licensing agreement with Orphan Technologies for the clinical development of EE-TP.
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