Showing results (81-90 of 201) with videos related to
Sort By:
Pageof 21
Human Genome Variation|October 23, 2025
Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegalyMizuki Harada, Takanori Onuki, Hiromi Nyuzuki, et al.Human Mutation|August 18, 2021
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.Brain & Development|September 17, 2017
Japanese Leigh syndrome case treated with EPI-743Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, et al.Brain & Development|August 28, 2021
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case reportTomoko Kashiki, Jun Kido, Ken Momosaki, et al.European Journal of Pediatrics|January 9, 2007
Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milkHironori Nagasaka, Ken-ichi Hirano, Akira Ohtake, et al.Molecular Genetics & Genomic Medicine|August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndromeYoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|June 7, 2016
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonateYuya Hashimura, Ichiro Morioka, Chieko Hisamatsu, et al.International Heart Journal|September 14, 2022
A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract StenosisHironori Shimozawa, Tomoyuki Sato, Hitoshi Osaka, et al.Journal of Inherited Metabolic Disease|May 19, 2025
Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement TherapyTomoyuki Akiyama, Takuo Kubota, Kei Murayama, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|February 12, 2016
Clinical and genetic features of lysinuric protein intolerance in JapanAtsuko Noguchi, Kimitoshi Nakamura, Kei Murayama, et al.Pageof 21