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Journal of Human Genetics|May 29, 2015
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenitaShinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, et al.
The Journal of Pediatrics|August 4, 2004
Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defectHironori Nagasaka, Haruki Komatsu, Toshihiro Ohura, et al.
Nutrients|September 28, 2021
Food Preferences of Patients with Citrin DeficiencyMiki Okamoto, Yoshiyuki Okano, Mai Okano, et al.
Molecular Genetics and Metabolism|July 9, 2026
Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patientsAtsuko Okazaki, Yukiko Yatsuka, Takuya Fushimi, et al.
Biochimica Et Biophysica Acta|July 21, 2009
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiencyHirofumi Komaki, Yutaka Nishigaki, Noriyuki Fuku, et al.
Journal of the Neurological Sciences|January 3, 2016
Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epilepticsTaku Omata, Katsunori Fujii, Jun-Ichi Takanashi, et al.
Scientific Reports|May 28, 2021
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndromeYoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, et al.
Brain & Development|November 3, 2020
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblingsIkuko Sato-Shirai, Erika Ogawa, Atsuko Arisaka, et al.
Human Mutation|July 20, 2017
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencingAtsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi, et al.
BMC Pediatrics|April 1, 2025
Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literatureFumiya Yamashita, Satoshi Akamine, Pin Fee Chong, et al.
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