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Journal of Gastroenterology and Hepatology|April 29, 2017
Zinc monotherapy for young children with presymptomatic Wilson disease: A multicenter study in JapanKeisuke Eda, Tatsuki Mizuochi, Itaru Iwama, et al.Journal of Medical Genetics|April 3, 2021
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathyZhimei Liu, Li Zhang, Changhong Ren, et al.Scientific Reports|December 12, 2023
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorderChupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, et al.Life (Basel, Switzerland)|August 28, 2025
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration StudyYuichi Abe, Toshimitsu Hamasaki, Jun Natsume, et al.Journal of Inherited Metabolic Disease|April 22, 2017
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patientsErika Ogawa, Masaru Shimura, Takuya Fushimi, et al.Journal of Human Genetics|September 19, 2014
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentationToshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, et al.Nucleic Acids Research|February 2, 2018
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human diseaseKana Asano, Takeo Suzuki, Ayaka Saito, et al.Mitochondrion|December 21, 2021
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > AMasaru Shimura, Takanori Onuki, Yohei Sugiyama, et al.Journal of Human Genetics|February 6, 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutationMisako Kunii, Hiroshi Doi, Yuichi Higashiyama, et al.Scientific Reports|November 24, 2019
A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testingYue Yao, Motoi Nishimura, Kei Murayama, et al.Pageof 21