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Human Genome Variation|September 14, 2018
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndromeTakahiro Ikeda, Hitoshi Osaka, Hiroko Shimbo, et al.
Molecular Genetics and Metabolism Reports|February 25, 2025
A girl with intragenic variants in <i>MARS2</i> and a chondrodysplasia phenotypeHiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, et al.
Molecular Genetics and Metabolism|April 24, 2025
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysisHiroyuki Iijima, Atsuko Imai-Okazaki, Yoshihito Kishita, et al.
Nephrology (Carlton, Vic.)|November 25, 2025
Mitochondrial Nephropathy With m.5538G>A Mutation Within the tRNA-Trp Region Assessed by Mitochondrial Function Analysis: A Case ReportMari Ikeda, Toshiyuki Imasawa, Takafumi Akanuma, et al.
Molecular Genetics and Metabolism|March 20, 2021
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemiaYoshiyuki Okano, Miki Okamoto, Masahide Yazaki, et al.
Brain & Development|September 11, 2019
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrumRei Takada, Takenori Tozawa, Hidehito Kondo, et al.
European Journal of Medical Genetics|May 29, 2021
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunctionKaori Aiba, Yuji Nakamura, Mari Sugimoto, et al.
Neuropediatrics|August 27, 2021
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive LeukodystrophyYuka Murofushi, Itaru Hayakawa, Yuichi Abe, et al.
Human Genome Variation|September 29, 2022
A Japanese patient with neonatal biotin-responsive basal ganglia diseaseMizuki Kobayashi, Yuichi Suzuki, Maki Nodera, et al.
Human Genome Variation|September 13, 2022
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndromeAtsushi Hattori, Torayuki Okuyama, Tetsumin So, et al.
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