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Annette Feigenbaum

Showing results (51-60 of 68) with videos related to

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Orphanet Journal of Rare Diseases|February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort studyMaria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, 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.
Orphanet Journal of Rare Diseases|March 24, 2019
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, CanadaMaria D Karaceper, Sara D Khangura, Kumanan Wilson, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 8, 2019
Health Care for Mitochondrial Disorders in Canada: A Survey of PhysiciansKaren Paik, Matthew A Lines, Pranesh Chakraborty, et al.
JIMD Reports|September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort StudyNataliya Yuskiv, Ammar Saad, Beth K Potter, 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.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
Orphanet Journal of Rare Diseases|February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort studyMaria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, 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.
Orphanet Journal of Rare Diseases|March 24, 2019
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, CanadaMaria D Karaceper, Sara D Khangura, Kumanan Wilson, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 8, 2019
Health Care for Mitochondrial Disorders in Canada: A Survey of PhysiciansKaren Paik, Matthew A Lines, Pranesh Chakraborty, et al.
JIMD Reports|September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort StudyNataliya Yuskiv, Ammar Saad, Beth K Potter, 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.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Pageof 7