Jerry Vockley
Affiliations: | University of Pittsburgh, Pittsburgh, PA, United States |
Area:
Genetics, Systematic Biology, BiochemistryGoogle:
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Publications
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| Karunanidhi A, Basu S, Zhao XJ, et al. (2023) Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 140: 107689 |
| Sklirou E, Alodaib AN, Dobrowolski SF, et al. (2021) Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders. Frontiers in Genetics. 11: 598760 |
| Vockley J. (2021) Long-chain fatty acid oxidation disorders and current management strategies. The American Journal of Managed Care. 26: S147-S154 |
| Elizondo G, Matern D, Vockley J, et al. (2020) Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. Molecular Genetics and Metabolism |
| Vockley J, Burton B, Berry G, et al. (2020) Effects of Triheptanoin (UX007) in Patients with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD): Results from an Open-Label, Long-Term Extension Study. Journal of Inherited Metabolic Disease |
| Glänzel NM, Grings M, da Rosa-Junior NT, et al. (2020) The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer and cell death signaling in striatum of rats. Journal of Inherited Metabolic Disease |
| Xiao C, Astiazaran-Symonds E, Basu S, et al. (2020) Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. American Journal of Medical Genetics. Part A |
| Dobrowolski SF, Alodaib A, Karunanidhi A, et al. (2020) Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. Molecular Genetics and Metabolism |
| Levy H, Lamppu D, Anastosoaie V, et al. (2019) 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics. Molecular Genetics and Metabolism |
| Staufner C, Peters B, Wagner M, et al. (2019) Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics |