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Jerry Vockley

Showing results (271-280 of 295) with videos related to

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Molecular Genetics and Metabolism|August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approachBarbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Oncotarget|April 23, 2016
Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytesLia R Edmunds, P Anthony Otero, Lokendra Sharma, et al.
Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Journal of Clinical Immunology|January 1, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe SepsisKate F Kernan, Lina Ghaloul-Gonzalez, Jerry Vockley, et al.
JCI Insight|October 15, 2020
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editingErik A Koppes, Bethany K Redel, Marie A Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Pageof 30

Showing results (271-280 of 295) with videos related to

Sort By:
Pageof 30
Molecular Genetics and Metabolism|August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approachBarbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Oncotarget|April 23, 2016
Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytesLia R Edmunds, P Anthony Otero, Lokendra Sharma, et al.
Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Journal of Clinical Immunology|January 1, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe SepsisKate F Kernan, Lina Ghaloul-Gonzalez, Jerry Vockley, et al.
JCI Insight|October 15, 2020
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editingErik A Koppes, Bethany K Redel, Marie A Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Pageof 30