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Jerry Vockley

Showing results (211-220 of 295) with videos related to

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Lancet (London, England)|April 19, 2014
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trialNicola Longo, Cary O Harding, Barbara K Burton, et al.
The Journal of Pediatrics|June 21, 2021
Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine DiseaseCaroline B Ewing, Kyle A Soltys, Kevin A Strauss, et al.
Pediatrics|October 3, 2007
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycineLynne A Wolfe, David N Finegold, Jerry Vockley, et al.
Molecular Genetics and Metabolism Reports|November 7, 2022
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunctionRachel Wolfe, Paige Heiman, Olivia D'Annibale, et al.
The Journal of Biological Chemistry|June 26, 2019
Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complexYudong Wang, Johan Palmfeldt, Niels Gregersen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Molecular Genetics and Metabolism|May 23, 2016
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS databaseLoren D M Pena, Sandra C van Calcar, Joyanna Hansen, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|September 11, 2004
Proteomic analysis of hyperdynamic mouse hearts with enhanced sarcoplasmic reticulum calcium cyclingGuoxiang Chu, Jaclyn P Kerr, Bryan Mitton, et al.
Ophthalmic Genetics|January 30, 2024
A proposal for an updated staging system for LCHADD retinopathyNida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.
Pageof 30

Showing results (211-220 of 295) with videos related to

Sort By:
Pageof 30
Lancet (London, England)|April 19, 2014
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trialNicola Longo, Cary O Harding, Barbara K Burton, et al.
The Journal of Pediatrics|June 21, 2021
Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine DiseaseCaroline B Ewing, Kyle A Soltys, Kevin A Strauss, et al.
Pediatrics|October 3, 2007
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycineLynne A Wolfe, David N Finegold, Jerry Vockley, et al.
Molecular Genetics and Metabolism Reports|November 7, 2022
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunctionRachel Wolfe, Paige Heiman, Olivia D'Annibale, et al.
The Journal of Biological Chemistry|June 26, 2019
Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complexYudong Wang, Johan Palmfeldt, Niels Gregersen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Molecular Genetics and Metabolism|May 23, 2016
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS databaseLoren D M Pena, Sandra C van Calcar, Joyanna Hansen, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|September 11, 2004
Proteomic analysis of hyperdynamic mouse hearts with enhanced sarcoplasmic reticulum calcium cyclingGuoxiang Chu, Jaclyn P Kerr, Bryan Mitton, et al.
Ophthalmic Genetics|January 30, 2024
A proposal for an updated staging system for LCHADD retinopathyNida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.
Pageof 30