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JIMD Reports|June 17, 2026
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension StudyYoichi Wada, Mahoko Furujo, Kenichi Kashimada, et al.Journal of Human Genetics|May 28, 2023
Novel ITPA variants identified by whole genome sequencing and RNA sequencingNanako Omichi, Yoshihito Kishita, Mina Nakama, et al.Molecular Genetics and Metabolism Reports|May 27, 2020
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathologyKeiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, et al.Molecular Genetics and Metabolism Reports|July 17, 2020
Therapeutic effect of <i>N</i>-carbamylglutamate in CPS1 deficiencyYohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, 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.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.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.Hepatology Research : the Official Journal of the Japan Society of Hepatology|April 20, 2024
RECAM-J 2023-Validation and development of the Japanese version of RECAM for the diagnosis of drug-induced liver injuryAtsushi Tanaka, Keiji Tsuji, Yasuyuki Komiyama, 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 Inherited Metabolic Disease|January 23, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosisErika Ogawa, Takuya Fushimi, Minako Ogawa-Tominaga, et al.Pageof 3