Author details

Full Name

Jerry Vockley

Affiliation

ORCID

Career Start Year

1984

Papers

316

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37976411	Genetic landscape of pediatric acute liver failure of indeterminate origin.	Hepatology	2024
37162351	Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.		2023
36330595	Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior.	Psychol Med	2023
36448938	Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.	Am J Med Genet C Semin Med Genet	2023
37660571	Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.		2023
37996701	Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome.	Nat Metab	2023
38076995	The Myc-Like Mlx Network Impacts Aging and Metabolism.		2023
37770764	Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.		2023
37688338	Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.		2023
36778323	A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.		2023
36580829	Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.		2023
37276053	Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.	J Inherit Metab Dis	2023
37207470	Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.		2023
36709926	Peroxisome proliferator-activated receptor (PPAR) agonists as a potential therapy for inherited metabolic disorders.		2023
37268435	Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.	Neurology	2023
36696737	Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).		2023
37245378	Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.		2023
37245089	Response to Beretich and Beretich.	Genet Med	2023
37371027	Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate.		2023
37432431	Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.	JAMA	2023
37107275	Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.		2023
36599942	Improving diagnosis of mitochondrial fatty-acid oxidation disorders.		2023
36453229	Whole-genome sequencing holds the key to the success of gene-targeted therapies.	Am J Med Genet C Semin Med Genet	2023
37503155	Loss of the mitochondrial citrate carrier, disrupts embryogenesis 2-Hydroxyglutarate.		2023
37481724	Premature aging and reduced cancer incidence associated with near-complete body-wide Myc inactivation.		2023
35197517	Mitochondrial dysfunction associated with TANGO2 deficiency.	Sci Rep	2022
35974248	Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.	Nat Metab	2022
35459555	Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.	Mol Genet Metab	2022
36101821	Glutamine energy substrate anaplerosis increases bone density in the Pah classical PKU mouse in the absence of phenylalanine restriction.	JIMD Reports	2022
36027720	Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.	Molecular Genetics and Metabolism	2022
35379539	Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.	Molecular Genetics and Metabolism	2022
36078043	Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor Î´ Agonist Improves Cellular Bioenergetics.	Cells	2022
36338154	ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.	Molecular Genetics and Metabolism Reports	2022
35367142	Comparative metabolomics in the Pah classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress.	Molecular Genetics and Metabolism	2022
35931300	Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.	Kidney International	2022
35677112	Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.	Mol Genet Metab Rep	2022
35613282	Lysine acylation causes collateral damage in inborn errors of metabolism.	Science Translational Medicine	2022
35927093	Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders.	Clinical Therapeutics	2022
35782613	Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.	Molecular Genetics and Metabolism Reports	2022
36393899	Natural history of propionic acidemia in the Amish population.	Molecular Genetics and Metabolism Reports	2022
33997936	Differences in lymphoma patients between chimeric antigen receptor T-cell therapy trials and the general population.	Clinical and Experimental Medicine	2022
35038174	Biomarkers for drug development in propionic and methylmalonic acidemias.	Journal of Inherited Metabolic Disease	2022
35218577	Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.	Journal of Inherited Metabolic Disease	2022
34973142	Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.	J Clin Immunol	2022
35076099	Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid Î²-oxidation deficient cells: A comparative study.	Journal of Inherited Metabolic Disease	2022
34638902	Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.	International Journal of Molecular Sciences	2021
34294923	Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.	Nat Metab	2021
34020866	Successful orthotopic heart transplantation in CPTII deficiency.	Molecular Genetics and Metabolism	2021
33487279	Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study.	Clinical Nutrition ESPEN	2021
34069977	Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.	Cells	2021