학술논문
Progression of micro-anatomical, molecular and metabolic changes affecting the liver of patients with TYMP derived mitochondrial disease
Document Type
Academic Journal
Author
Source
Italian Journal of Anatomy and Embryology. September 11, 2023, Vol. 127 Issue S1, p46, 2 p.
Subject
Language
English
ISSN
1122-6714
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare fatal disease caused by mutations in TYMP gene, which leads to toxic nucleoside accumulation and mtDNA damage. Liver transplant, used to replace TYMP, [...]