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Akira Ohtake

Showing results (91-100 of 144) with videos related to

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Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.
International Journal of Cardiology|January 16, 2019
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic backgroundAtsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, et al.
Journal of Inherited Metabolic Disease|November 20, 2012
Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatmentYoshitaka Seki, Tatsuki Mizuochi, Akihiko Kimura, et al.
Scientific Reports|December 12, 2023
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorderChupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, et al.
Molecular Genetics and Metabolism|April 26, 2011
Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuriaYoshitami Sanayama, Hironori Nagasaka, Masaki Takayanagi, et al.
Scientific Reports|July 24, 2019
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseasesMasaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, et al.
Life (Basel, Switzerland)|August 28, 2025
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration StudyYuichi Abe, Toshimitsu Hamasaki, Jun Natsume, et al.
Annals of Neurology|January 6, 2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyRobert McFarland, Denise M Kirby, Kerry J Fowler, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|June 15, 2012
Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acidsAkina Muto, Hajime Takei, Atsushi Unno, et al.
Journal of Human Genetics|September 19, 2014
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentationToshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, et al.
Pageof 15

Showing results (91-100 of 144) with videos related to

Sort By:
Pageof 15
Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.
International Journal of Cardiology|January 16, 2019
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic backgroundAtsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, et al.
Journal of Inherited Metabolic Disease|November 20, 2012
Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatmentYoshitaka Seki, Tatsuki Mizuochi, Akihiko Kimura, et al.
Scientific Reports|December 12, 2023
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorderChupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, et al.
Molecular Genetics and Metabolism|April 26, 2011
Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuriaYoshitami Sanayama, Hironori Nagasaka, Masaki Takayanagi, et al.
Scientific Reports|July 24, 2019
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseasesMasaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, et al.
Life (Basel, Switzerland)|August 28, 2025
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration StudyYuichi Abe, Toshimitsu Hamasaki, Jun Natsume, et al.
Annals of Neurology|January 6, 2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyRobert McFarland, Denise M Kirby, Kerry J Fowler, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|June 15, 2012
Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acidsAkina Muto, Hajime Takei, Atsushi Unno, et al.
Journal of Human Genetics|September 19, 2014
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentationToshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, et al.
Pageof 15