Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Jerry Vockley

Showing results (241-250 of 295) with videos related to

Pageof 30
Sort By:
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey Levy, et al.
Antioxidants (Basel, Switzerland)|April 28, 2023
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient KidneysMerlin Airik, Haley Arbore, Elizabeth Childs, et al.
Journal of Inherited Metabolic Disease|January 26, 2017
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitusKaitlyn Bloom, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Molecular Genetics and Metabolism|September 16, 2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disordersSusan A Berry, Jerry Vockley, Alexander A Vinks, et al.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
JCI Insight|August 1, 2024
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiencyEduardo Vieira Neto, Meicheng Wang, Austin J Szuminsky, et al.
Blood|March 15, 2021
Very long chain fatty acid metabolism is required in acute myeloid leukemiaMatthew Tcheng, Alessia Roma, Nawaz Ahmed, et al.
Journal of Inherited Metabolic Disease|July 10, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)Hak Chung, Dongseok Choi, Ashley Gregor, et al.
Human Mutation|July 9, 2026
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and PhenotypesHeather Richbourg, Vanessa Rangel Miller, Omid Khazaie Japalaghi, et al.
Pageof 30

Showing results (241-250 of 295) with videos related to

Sort By:
Pageof 30
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey Levy, et al.
Antioxidants (Basel, Switzerland)|April 28, 2023
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient KidneysMerlin Airik, Haley Arbore, Elizabeth Childs, et al.
Journal of Inherited Metabolic Disease|January 26, 2017
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitusKaitlyn Bloom, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Molecular Genetics and Metabolism|September 16, 2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disordersSusan A Berry, Jerry Vockley, Alexander A Vinks, et al.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
JCI Insight|August 1, 2024
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiencyEduardo Vieira Neto, Meicheng Wang, Austin J Szuminsky, et al.
Blood|March 15, 2021
Very long chain fatty acid metabolism is required in acute myeloid leukemiaMatthew Tcheng, Alessia Roma, Nawaz Ahmed, et al.
Journal of Inherited Metabolic Disease|July 10, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)Hak Chung, Dongseok Choi, Ashley Gregor, et al.
Human Mutation|July 9, 2026
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and PhenotypesHeather Richbourg, Vanessa Rangel Miller, Omid Khazaie Japalaghi, et al.
Pageof 30