Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation

Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation

Background: Depending on the genetic mutation, mitochondrial hepatopathy has a variable presentation. Spontaneous recovery is a rare occurrence in these patients. However, complete recovery is possible in infants having t-RNA5-methylaminomethyl-2-thiouridylate methyl-transferase (TRMU) gene mutation...

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Bibliographic Details
Main Authors: Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2021-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
infantile mitochondrial hepatopathy
trmu
hepatic failure
spontaneous recovery
case report
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=136868

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http://www.ejmanager.com/fulltextpdf.php?mno=136868

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