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Neurology
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March 4, 2018
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy
Amel Karaa, Richard Haas, Amy Goldstein, et al.
Molecular Genetics and Metabolism
|
June 28, 2015
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review
Jerry Vockley, Deborah Marsden, Elizabeth McCracken, et al.
Journal of Inherited Metabolic Disease
|
January 25, 2022
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study
Anuradha Karunanidhi, Clinton Van't Land, Dhivyaa Rajasundaram, et al.
Molecular Genetics and Metabolism
|
May 3, 2005
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
A Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
American Journal of Medical Genetics. Part A
|
April 18, 2024
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, et al.
Molecular Genetics and Metabolism
|
March 22, 2007
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system
Eric S Goetzman, Yudong Wang, Miao He, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
J Lawrence Merritt, Dietrich Matern, Jerry Vockley, et al.
Molecular Genetics and Metabolism
|
January 25, 2023
Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)
James P DeLany, Angela Horgan, Ashley Gregor, et al.
Clinical Nutrition ESPEN
|
January 25, 2021
Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study
Jerry Vockley, Nicola Longo, Megan Madden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Response to Burgard et al
Wendy E Smith, Barbara K Burton, Christine Brown, et al.
Page
of 30
Search research articles
Search
Showing results (81-90 of 293) with videos related to
Sort By:
Page
of 30
Neurology
|
March 4, 2018
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy
Amel Karaa, Richard Haas, Amy Goldstein, et al.
Molecular Genetics and Metabolism
|
June 28, 2015
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review
Jerry Vockley, Deborah Marsden, Elizabeth McCracken, et al.
Journal of Inherited Metabolic Disease
|
January 25, 2022
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study
Anuradha Karunanidhi, Clinton Van't Land, Dhivyaa Rajasundaram, et al.
Molecular Genetics and Metabolism
|
May 3, 2005
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
A Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
American Journal of Medical Genetics. Part A
|
April 18, 2024
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, et al.
Molecular Genetics and Metabolism
|
March 22, 2007
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system
Eric S Goetzman, Yudong Wang, Miao He, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
J Lawrence Merritt, Dietrich Matern, Jerry Vockley, et al.
Molecular Genetics and Metabolism
|
January 25, 2023
Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)
James P DeLany, Angela Horgan, Ashley Gregor, et al.
Clinical Nutrition ESPEN
|
January 25, 2021
Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study
Jerry Vockley, Nicola Longo, Megan Madden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Response to Burgard et al
Wendy E Smith, Barbara K Burton, Christine Brown, et al.
Page
of 30