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Pediatric Transplantation|November 27, 2023
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutationsMasashi Kadohisa, Tatsuya Okamoto, Miki Yamamoto, et al.Molecular Genetics and Metabolism Reports|January 12, 2023
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial diseaseChika Watanabe, Hitoshi Osaka, Miyuki Watanabe, et al.Journal of Human Genetics|January 27, 2017
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathyNurun N Borna, Yoshihito Kishita, Kaori Ishikawa, et al.Molecular Genetics and Metabolism|October 6, 2023
Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolitesYamato Muto, Mitsuyoshi Suzuki, Hajime Takei, et al.Neurogenetics|January 5, 2019
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndromeNurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, et al.Brain & Development|December 4, 2014
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological reportHesham Montassir, Yoshihiro Maegaki, Kei Murayama, et al.Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.Internal Medicine (Tokyo, Japan)|December 21, 2022
Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction SyndromeAyane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, et al.Scientific Reports|July 24, 2019
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseasesMasaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, et al.International Journal of Cardiology|January 16, 2019
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic backgroundAtsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, et al.Pageof 21