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Jerry Vockley

Showing results (171-180 of 294) with videos related to

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Gene Therapy|March 30, 2026
First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 studyJirair K Bedoyan, Thomas Morgan, Angela Sun, et al.
The Journal of Clinical Endocrinology and Metabolism|September 15, 2012
Metabolomic profiling of amino acids and β-cell function relative to insulin sensitivity in youthSara F Michaliszyn, Lindsey A Sjaarda, Stephanie J Mihalik, et al.
Molecular Genetics and Metabolism|June 16, 2010
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningJaffar Alfardan, Al-Walid Mohsen, Sara Copeland, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 15, 2015
Postnatal Pancraniosynostosis in a Patient With Infantile HypophosphatasiaEdward H Nahabet, James Gatherwright, Jerry Vockley, et al.
Journal of Inherited Metabolic Disease|September 5, 2020
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension studyJerry Vockley, Barbara Burton, Gerard Berry, et al.
Molecular Genetics and Metabolism|March 27, 2014
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registryDorothy K Grange, Richard E Hillman, Barbara K Burton, et al.
Molecular Genetics and Metabolism|June 27, 2016
Mitochondrial respiratory chain disorders in the Old Order Amish populationLina Ghaloul-Gonzalez, Amy Goldstein, Catherine Walsh Vockley, et al.
Human Molecular Genetics|November 17, 2018
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengersBianca Seminotti, Guilhian Leipnitz, Anuradha Karunanidhi, et al.
Molecular Genetics and Metabolism|September 24, 2021
Development and characterization of a mouse model for Acad9 deficiencyAndrew Sinsheimer, Al-Walid Mohsen, Kailyn Bloom, et al.
Neuromuscular Disorders : NMD|July 19, 2003
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndromeYutaka Nishigaki, Saba Tadesse, Eduardo Bonilla, et al.
Pageof 30

Showing results (171-180 of 294) with videos related to

Sort By:
Pageof 30
Gene Therapy|March 30, 2026
First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 studyJirair K Bedoyan, Thomas Morgan, Angela Sun, et al.
The Journal of Clinical Endocrinology and Metabolism|September 15, 2012
Metabolomic profiling of amino acids and β-cell function relative to insulin sensitivity in youthSara F Michaliszyn, Lindsey A Sjaarda, Stephanie J Mihalik, et al.
Molecular Genetics and Metabolism|June 16, 2010
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningJaffar Alfardan, Al-Walid Mohsen, Sara Copeland, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 15, 2015
Postnatal Pancraniosynostosis in a Patient With Infantile HypophosphatasiaEdward H Nahabet, James Gatherwright, Jerry Vockley, et al.
Journal of Inherited Metabolic Disease|September 5, 2020
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension studyJerry Vockley, Barbara Burton, Gerard Berry, et al.
Molecular Genetics and Metabolism|March 27, 2014
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registryDorothy K Grange, Richard E Hillman, Barbara K Burton, et al.
Molecular Genetics and Metabolism|June 27, 2016
Mitochondrial respiratory chain disorders in the Old Order Amish populationLina Ghaloul-Gonzalez, Amy Goldstein, Catherine Walsh Vockley, et al.
Human Molecular Genetics|November 17, 2018
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengersBianca Seminotti, Guilhian Leipnitz, Anuradha Karunanidhi, et al.
Molecular Genetics and Metabolism|September 24, 2021
Development and characterization of a mouse model for Acad9 deficiencyAndrew Sinsheimer, Al-Walid Mohsen, Kailyn Bloom, et al.
Neuromuscular Disorders : NMD|July 19, 2003
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndromeYutaka Nishigaki, Saba Tadesse, Eduardo Bonilla, et al.
Pageof 30