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Jerry Vockley

Showing results (141-150 of 294) with videos related to

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Scientific Reports|February 24, 2022
Mitochondrial dysfunction associated with TANGO2 deficiencyPaige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
American Journal of Medical Genetics. Part A|August 18, 2020
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, et al.
BMJ Case Reports|November 24, 2011
Erratum: GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviourLisa Pan, Brian William McKain, Suneeta Madan-Khetarpal, et al.
Human Gene Therapy|May 27, 2008
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCADStuart G Beattie, Eric Goetzman, Thomas Conlon, et al.
Biomedicines|January 28, 2026
Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCADYudong Wang, Gregory Varga, Meicheng Wang, et al.
Biochemistry|September 11, 2002
Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzymeTien V Nguyen, Charles Riggs, Dusica Babovic-Vuksanovic, et al.
Cells|June 2, 2021
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation DisordersKhaled I Alatibi, Judith Hagenbuchner, Zeinab Wehbe, et al.
Molecular Genetics and Metabolism|April 3, 2022
Comparative metabolomics in the Pah<sup>enu2</sup> classical PKU mouse identifies cerebral energy pathway disruption and oxidative stressSteven F Dobrowolski, Yu Leng Phua, Cayla Sudano, et al.
Molecular Genetics and Metabolism|April 13, 2021
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stressSteven F Dobrowolski, Yu Leng Phua, Cayla Sudano, et al.
Molecular Genetics and Metabolism|March 11, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from CanadaRanda Sultan, Anastasia Ambrose, Shalini Bahl, et al.
Pageof 30

Showing results (141-150 of 294) with videos related to

Sort By:
Pageof 30
Scientific Reports|February 24, 2022
Mitochondrial dysfunction associated with TANGO2 deficiencyPaige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
American Journal of Medical Genetics. Part A|August 18, 2020
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, et al.
BMJ Case Reports|November 24, 2011
Erratum: GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviourLisa Pan, Brian William McKain, Suneeta Madan-Khetarpal, et al.
Human Gene Therapy|May 27, 2008
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCADStuart G Beattie, Eric Goetzman, Thomas Conlon, et al.
Biomedicines|January 28, 2026
Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCADYudong Wang, Gregory Varga, Meicheng Wang, et al.
Biochemistry|September 11, 2002
Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzymeTien V Nguyen, Charles Riggs, Dusica Babovic-Vuksanovic, et al.
Cells|June 2, 2021
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation DisordersKhaled I Alatibi, Judith Hagenbuchner, Zeinab Wehbe, et al.
Molecular Genetics and Metabolism|April 3, 2022
Comparative metabolomics in the Pah<sup>enu2</sup> classical PKU mouse identifies cerebral energy pathway disruption and oxidative stressSteven F Dobrowolski, Yu Leng Phua, Cayla Sudano, et al.
Molecular Genetics and Metabolism|April 13, 2021
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stressSteven F Dobrowolski, Yu Leng Phua, Cayla Sudano, et al.
Molecular Genetics and Metabolism|March 11, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from CanadaRanda Sultan, Anastasia Ambrose, Shalini Bahl, et al.
Pageof 30