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Janet A Thomas

Showing results (11-20 of 26) with videos related to

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Molecular Genetics and Metabolism|February 28, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approachAlvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, et al.
Orphanet Journal of Rare Diseases|July 6, 2018
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension studyNicola Longo, Roberto Zori, Melissa P Wasserstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.
European Journal of Pediatrics|September 25, 2007
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid geneJohan L K Van Hove, Cynthia Freehauf, Shelley Miyamoto, et al.
Molecular Genetics and Metabolism|May 23, 2008
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscleAriel Brautbar, Jing Wang, Jose E Abdenur, et al.
Molecular Genetics and Metabolism|December 27, 2024
Feasibility of newborn screening for pyridoxine-dependent epilepsyKristine Pauly, Michael Woontner, Jose E Abdenur, et al.
The Journal of Pediatrics|December 13, 2016
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and ManagementLorne A Clarke, Andrea M Atherton, Barbara K Burton, et al.
Molecular Genetics and Metabolism|May 24, 2011
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuriaAmy K Keating, Cynthia Freehauf, Hua Jiang, 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.
Pediatric Research|May 11, 2010
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathyJohan L K Van Hove, Margarita S Saenz, Janet A Thomas, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism|February 28, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approachAlvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, et al.
Orphanet Journal of Rare Diseases|July 6, 2018
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension studyNicola Longo, Roberto Zori, Melissa P Wasserstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.
European Journal of Pediatrics|September 25, 2007
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid geneJohan L K Van Hove, Cynthia Freehauf, Shelley Miyamoto, et al.
Molecular Genetics and Metabolism|May 23, 2008
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscleAriel Brautbar, Jing Wang, Jose E Abdenur, et al.
Molecular Genetics and Metabolism|December 27, 2024
Feasibility of newborn screening for pyridoxine-dependent epilepsyKristine Pauly, Michael Woontner, Jose E Abdenur, et al.
The Journal of Pediatrics|December 13, 2016
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and ManagementLorne A Clarke, Andrea M Atherton, Barbara K Burton, et al.
Molecular Genetics and Metabolism|May 24, 2011
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuriaAmy K Keating, Cynthia Freehauf, Hua Jiang, 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.
Pediatric Research|May 11, 2010
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathyJohan L K Van Hove, Margarita S Saenz, Janet A Thomas, et al.
Pageof 3