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Journal of Human Genetics|July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunctionKohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.Clinical Case Reports|March 23, 2019
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case reportKeiichi Hirono, Fukiko Ichida, Natsuhito Nishio, et al.Brain & Development|February 12, 2019
MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet geneMari Kuwajima, Masahide Goto, Koyuru Kurane, et al.Internal Medicine (Tokyo, Japan)|November 29, 2021
Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial DiseasesMasanori Kurihara, Yusuke Sugiyama, Masaki Tanaka, et al.Molecular Genetics and Metabolism|January 24, 2012
Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiencyTaiichi Wakiya, Yukihiro Sanada, Taizen Urahashi, et al.European Journal of Pediatrics|May 17, 2006
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiencyHironori Nagasaka, Tohru Yorifuji, Kei Murayama, et al.Mitochondrion|January 5, 2021
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophyZhimei Liu, Masaru Shimura, Li Zhang, et al.Journal of the Neurological Sciences|January 10, 2024
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological studyMariko Kasai, Hiroshi Sakuma, Yuichi Abe, et al.Journal of Inherited Metabolic Disease|February 10, 2022
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in JapanJun Kido, Johannes Häberle, Keishin Sugawara, 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.Pageof 21