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Brain & Development|March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutationsJunpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.Journal of Medical Microbiology|February 7, 2015
Analysis of Haemophilus influenzae serotype f isolated from three Japanese children with invasive H. influenzae infectionTadashi Hoshino, Yushi Hachisu, Takashi Kikuchi, et al.Molecular Genetics and Metabolism Reports|August 19, 2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndromeJoonil Kim, Eungu Kang, Yoonmyung Kim, et al.Journal of Inherited Metabolic Disease|April 11, 2021
Long-term outcome of urea cycle disorders: Report from a nationwide study in JapanJun Kido, Shirou Matsumoto, Johannes Häberle, et al.Journal of Medical Genetics|August 8, 2015
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionKenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, et al.Atherosclerosis|April 24, 2008
Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndromeHironori Nagasaka, Takashi Miida, Ken-ichi Hirano, et al.Journal of Inherited Metabolic Disease|September 2, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial diseaseAtsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, et al.Journal of Inherited Metabolic Disease|September 8, 2023
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screeningJun Kido, Johannes Häberle, Toju Tanaka, et al.Biomolecules|January 25, 2025
NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse ModelTamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.Molecular Genetics and Metabolism Reports|March 27, 2023
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese familySayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, et al.Pageof 21