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Brain & Development|October 12, 2013
Leigh syndrome with Fukuyama congenital muscular dystrophy: a case reportHidehito Kondo, Koichi Tanda, Chihiro Tabata, et al.
BMC Medical Genetics|July 18, 2020
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case reportDan Sun, Zhimei Liu, Yongchu Liu, et al.
Metabolism: Clinical and Experimental|February 17, 2009
Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defectsHironori Nagasaka, Hirokazu Tsukahara, Tohru Yorifuji, et al.
The FEBS Journal|August 13, 2022
Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and functionHarrison Burgin, Alice J Sharpe, Shuai Nie, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|November 7, 2024
Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion SyndromeYoshihito Kishita, Ayumu Sugiura, Nanako Omichi, et al.
Brain & Development|March 5, 2018
An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutationMakoto Nishioka, Yuji Inaba, Mitsuo Motobayashi, et al.
Molecular Genetics and Metabolism Reports|May 7, 2026
<i>DGUOK</i>-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfallMoe Li, Hideo Sasai, Hiroaki Taniguchi, et al.
Brain & Development|March 29, 2011
Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathyChikako Arakawa, Ayumi Endo, Ryutaro Kohira, et al.
Brain & Development|March 7, 2018
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutationAkihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, et al.
Science Progress|April 23, 2021
Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial diseaseYuki Sato, Ryoji Aoki, Nobuhiko Nagano, et al.
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