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No to Hattatsu = Brain and Development|July 17, 2018
A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introducedMari Sugimoto, Takao Togawa, Kaori Aiba, et al.Mitochondrion|June 5, 2021
Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levelsAtsuko Imai-Okazaki, Nobuyasu Yagi, Kazuhiro R Nitta, et al.Molecular Genetics and Metabolism|June 5, 2012
Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: diagnosis of mitochondrial respiratory chain disordersTakuma Yamamoto, Yuko Emoto, Kei Murayama, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|August 6, 2013
Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorderShigehiro Enkai, Sachi Koinuma, Reiko Ito, et al.Journal of the Neurological Sciences|September 20, 2024
Efficacy of a mitochondrial drug cocktail in preventing acute encephalopathy with biphasic seizures and late reduced diffusionTaku Omata, Hiromi Aoyama, Kei Murayama, et al.Blood Cells, Molecules & Diseases|June 1, 2016
A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24monthsHiroyuki Ida, Akemi Tanaka, Tomoko Matsubayashi, et al.Kidney International Reports|March 8, 2022
Clinicopathologic Features of Mitochondrial NephropathyToshiyuki Imasawa, Daishi Hirano, Kandai Nozu, et al.Frontiers in Molecular Biosciences|December 8, 2025
A DNA2 mutation in the ATP-binding motif identified in a diagnostically unresolved individualKeisuke Saito, Yukiko Yatsuka, Ayuno Kawakami, et al.Journal of Clinical Laboratory Analysis|December 16, 2025
Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational AnalysisFeng Jiang, Ayumu Sugiura, Yoshihito Kishita, et al.Molecular Genetics and Metabolism Reports|June 9, 2020
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiencyTomonori Suyama, Masaru Shimura, Takuya Fushimi, et al.Pageof 21