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Jerry Vockley

Showing results (251-260 of 295) with videos related to

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Journal of Inherited Metabolic Disease|September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trialMelanie B Gillingham, Stephen B Heitner, Julie Martin, et al.
JCI Insight|April 8, 2026
Corrigendum to: Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiencyEduardo Vieira Neto, Meicheng Wang, Austin J Szuminsky, et al.
Molecular Genetics and Metabolism|May 19, 2023
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoinM Laura Duque Lasio, Angela C Leshinski, Nicole H Ducich, et al.
Neurology|January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trialKaren L Madsen, Astrid E Buch, Bruce H Cohen, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Molecular Genetics and Metabolism|December 29, 2022
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine modelXue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
JAMA Pediatrics|February 15, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) StudyJill L Maron, Stephen F Kingsmore, Kristen Wigby, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
Nature Metabolism|July 23, 2021
Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a studyMarja K Puurunen, Jerry Vockley, Shawn L Searle, et al.
JAMA|July 11, 2023
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic DisorderJill L Maron, Stephen Kingsmore, Bruce D Gelb, et al.
Pageof 30

Showing results (251-260 of 295) with videos related to

Sort By:
Pageof 30
Journal of Inherited Metabolic Disease|September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trialMelanie B Gillingham, Stephen B Heitner, Julie Martin, et al.
JCI Insight|April 8, 2026
Corrigendum to: Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiencyEduardo Vieira Neto, Meicheng Wang, Austin J Szuminsky, et al.
Molecular Genetics and Metabolism|May 19, 2023
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoinM Laura Duque Lasio, Angela C Leshinski, Nicole H Ducich, et al.
Neurology|January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trialKaren L Madsen, Astrid E Buch, Bruce H Cohen, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Molecular Genetics and Metabolism|December 29, 2022
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine modelXue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
JAMA Pediatrics|February 15, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) StudyJill L Maron, Stephen F Kingsmore, Kristen Wigby, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
Nature Metabolism|July 23, 2021
Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a studyMarja K Puurunen, Jerry Vockley, Shawn L Searle, et al.
JAMA|July 11, 2023
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic DisorderJill L Maron, Stephen Kingsmore, Bruce D Gelb, et al.
Pageof 30