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Biochimica Et Biophysica Acta|August 23, 2011
Pyruvate therapy for mitochondrial DNA depletion syndromeKeiko Saito, Nobusuke Kimura, Nozomi Oda, et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology|September 20, 2015
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case reportNaomi Kuranobu, Jun Murakami, Ken Okamoto, et al.
Journal of Human Genetics|July 1, 2016
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive familiesAtsuko Imai, Masakazu Kohda, Akihiro Nakaya, et al.
Human Genome Variation|November 21, 2025
Fontaine progeroid syndrome with neonatal mitochondrial diseaseMitsuhiko Riko, Daiki Kawamoto, Kentaro Hirayama, et al.
Molecular Genetics and Metabolism Reports|October 27, 2025
Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumoniaTakato Akiba, Shino Shimada, Shimpei Matsuda, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 MutationKenji Shimizu, Daiju Oba, Ryusuke Nambu, et al.
Genes|November 13, 2020
Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSLNurun Nahar Borna, Yoshihito Kishita, Norio Sakai, et al.
European Journal of Pediatrics|June 19, 2008
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiencyKei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, et al.
Scientific Reports|January 11, 2018
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and FunctionSze Chern Lim, Makiko Tajika, Masaru Shimura, et al.
Radiology Case Reports|October 10, 2024
Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in <i>ECHS1</i>-related Leigh syndromeYuka Murofushi, Kenta Ochiai, Madoka Yasukochi, et al.
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