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Jerry Vockley

Showing results (201-210 of 295) with videos related to

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JIMD Reports|August 9, 2019
Domino liver transplantation for select metabolic disorders: Expanding the living donor poolNeslihan Celik, James E Squires, Kyle Soltys, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Recommendations for the nutrition management of phenylalanine hydroxylase deficiencyRani H Singh, Fran Rohr, Dianne Frazier, et al.
Kidney International|August 5, 2022
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1Merlin Airik, Yu Leng Phua, Amy B Huynh, et al.
Molecular Genetics and Metabolism|February 6, 2014
Liver transplantation for pediatric metabolic diseaseGeorge Mazariegos, Benjamin Shneider, Barbara Burton, et al.
Cell Death and Differentiation|December 29, 2024
Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53Anna Kasprzyk-Pawelec, Mingjun Tan, Raneen Rahhal, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|March 25, 2011
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathwayPaula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, et al.
Scientific Reports|July 5, 2016
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUDDavis S Sonnet, Monique N O'Leary, Mark A Gutierrez, et al.
Scientific Reports|November 2, 2019
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical PresentationLina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Pediatrics|July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometryDietrich Matern, Miao He, Susan A Berry, et al.
Journal of Inherited Metabolic Disease|April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathyMelanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Pageof 30

Showing results (201-210 of 295) with videos related to

Sort By:
Pageof 30
JIMD Reports|August 9, 2019
Domino liver transplantation for select metabolic disorders: Expanding the living donor poolNeslihan Celik, James E Squires, Kyle Soltys, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Recommendations for the nutrition management of phenylalanine hydroxylase deficiencyRani H Singh, Fran Rohr, Dianne Frazier, et al.
Kidney International|August 5, 2022
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1Merlin Airik, Yu Leng Phua, Amy B Huynh, et al.
Molecular Genetics and Metabolism|February 6, 2014
Liver transplantation for pediatric metabolic diseaseGeorge Mazariegos, Benjamin Shneider, Barbara Burton, et al.
Cell Death and Differentiation|December 29, 2024
Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53Anna Kasprzyk-Pawelec, Mingjun Tan, Raneen Rahhal, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|March 25, 2011
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathwayPaula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, et al.
Scientific Reports|July 5, 2016
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUDDavis S Sonnet, Monique N O'Leary, Mark A Gutierrez, et al.
Scientific Reports|November 2, 2019
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical PresentationLina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Pediatrics|July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometryDietrich Matern, Miao He, Susan A Berry, et al.
Journal of Inherited Metabolic Disease|April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathyMelanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Pageof 30