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Pediatrics International : Official Journal of the Japan Pediatric Society|June 7, 2011
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 geneOsamu Sakamoto, Toshihiro Ohura, Kei Murayama, et al.
Pediatric Transplantation|July 15, 2021
Outcomes of liver transplantation for mitochondrial respiratory chain disorder in childrenHajime Uchida, Seisuke Sakamoto, Seiichi Shimizu, et al.
Molecular Genetics and Metabolism Reports|November 9, 2020
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case reportMadoka Uesugi, Jun Mori, Shota Fukuhara, et al.
Molecular Genetics and Metabolism Reports|March 21, 2023
Focal segmental glomerulosclerosis with a mutation in the <i>mitochondrially encoded NADH dehydrogenase 5</i> gene: A case reportTsukasa Naganuma, Toshiyuki Imasawa, Ikuo Nukui, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 24, 2020
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patientsTomoko Lee, Katsuhiko Yoshii, Satoru Yoshida, et al.
Cureus|November 3, 2025
A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral InfectionRyusei Kubo, Yoichi Iwamoto, Sayaka Ajihara, et al.
Molecular Genetics and Metabolism Reports|March 24, 2025
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantationKazuhiro Yokota, Akira Ohtake, Taro Yamazaki, et al.
Molecular Genetics and Metabolism|May 17, 2014
Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation studyTatsuya Fujii, Fumihito Nozaki, Keiko Saito, et al.
Brain & Development|June 11, 2019
Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>CAtsuko Kori, Ikumi Hori, Tatsushi Tanaka, et al.
European Journal of Pediatrics|June 16, 2015
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature reviewTakeshi Sato, Koji Muroya, Junko Hanakawa, et al.
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