Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
MPV17-related mtDNA depletion syndrome complicated by postreperfusion syndrome during liver transplantation.
Finsterer J
International Journal of Surgery Case Reports, 2024
Intraoperative management during liver transplantation in the child with mitochondrial depletion syndrome: A case report.
Che L et al.
International Journal of Surgery Case Reports, 2024
Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV17 deficiency: a case report and literature review.
Wei LY et al.
Frontiers in Surgery, 2024
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
Vara R et al.
Journal of Inherited Metabolic Disease, 2023
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C et al.
Molecular Genetics and Metabolism Reports, 2023
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Huang AC et al.
Pediatric Transplantation, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children.
Uchida H et al.
Pediatric Transplantation, 2021
MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Hong KT et al.
The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N et al.
Scientific Reports, 2021
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M et al.
Orphanet Journal of Rare Diseases, 2020
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Human Mutation, 2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Kim J et al.
Molecular Genetics and Metabolism Reports, 2016
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Yamazaki T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J et al.
European Journal of Human Genetics : Ejhg, 2014
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW et al.
Molecular Genetics and Metabolism, 2010
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S et al.
Molecular Genetics and Metabolism, 2009
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
AlSaman A et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0