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Jerry Vockley

Showing results (221-230 of 295) with videos related to

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Human Mutation|April 26, 2018
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, et al.
Biorxiv : the Preprint Server for Biology|July 16, 2025
Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disordersKeaton J Solo, Yuxun Zhang, Sivakama S Bharathi, et al.
JAMA|October 12, 2010
Effects of diet and physical activity interventions on weight loss and cardiometabolic risk factors in severely obese adults: a randomized trialBret H Goodpaster, James P Delany, Amy D Otto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
Molecular Genetics and Metabolism|October 3, 2002
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansTien V Nguyen, Brage S Andresen, Thomas J Corydon, et al.
Cell Metabolism|April 2, 2019
Metabolic Reprogramming in Astrocytes Distinguishes Region-Specific Neuronal Susceptibility in Huntington MiceAris A Polyzos, Do Yup Lee, Rupsa Datta, et al.
The Journal of Clinical Investigation|February 3, 2011
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayMiao He, Lisa E Kratz, Joshua J Michel, et al.
Molecular Genetics and Metabolism|May 29, 2013
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in WisconsinSandra C Van Calcar, Mei W Baker, Phillip Williams, et al.
Molecular Genetics and Metabolism Reports|May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial programCary O Harding, Nicola Longo, Hope Northrup, et al.
Pageof 30

Showing results (221-230 of 295) with videos related to

Sort By:
Pageof 30
Human Mutation|April 26, 2018
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, et al.
Biorxiv : the Preprint Server for Biology|July 16, 2025
Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disordersKeaton J Solo, Yuxun Zhang, Sivakama S Bharathi, et al.
JAMA|October 12, 2010
Effects of diet and physical activity interventions on weight loss and cardiometabolic risk factors in severely obese adults: a randomized trialBret H Goodpaster, James P Delany, Amy D Otto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
Molecular Genetics and Metabolism|October 3, 2002
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansTien V Nguyen, Brage S Andresen, Thomas J Corydon, et al.
Cell Metabolism|April 2, 2019
Metabolic Reprogramming in Astrocytes Distinguishes Region-Specific Neuronal Susceptibility in Huntington MiceAris A Polyzos, Do Yup Lee, Rupsa Datta, et al.
The Journal of Clinical Investigation|February 3, 2011
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayMiao He, Lisa E Kratz, Joshua J Michel, et al.
Molecular Genetics and Metabolism|May 29, 2013
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in WisconsinSandra C Van Calcar, Mei W Baker, Phillip Williams, et al.
Molecular Genetics and Metabolism Reports|May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial programCary O Harding, Nicola Longo, Hope Northrup, et al.
Pageof 30