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Molecular Genetics and Metabolism
|
December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Molecular Genetics and Metabolism
|
January 9, 2025
Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia
Oleg A Shchelochkov, Huw Davies, Robert P Mohney, et al.
Food & Function
|
June 7, 2021
Structure-activity relationship of avocadyne
Matthew Tcheng, Vitor L S Cunha, Nawaz Ahmed, et al.
The Journal of Biological Chemistry
|
October 15, 2013
Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site
Sivakama S Bharathi, Yuxun Zhang, Al-Walid Mohsen, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Translational Psychiatry
|
December 14, 2023
Metabolic features of treatment-refractory major depressive disorder with suicidal ideation
Lisa A Pan, Jane C Naviaux, Lin Wang, et al.
Molecular Genetics and Metabolism
|
March 8, 2024
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program
Erru Yang, Eliza Kruger, David Yin, et al.
Journal of Hepatology
|
July 30, 2010
Barriers to the successful treatment of liver disease by hepatocyte transplantation
Kyle A Soltys, Alejandro Soto-Gutiérrez, Masaki Nagaya, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
May 11, 2019
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo
Bartholomew P Roland, Kristen R Richards, Stacy L Hrizo, et al.
Journal of Inherited Metabolic Disease
|
June 5, 2023
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study
Jerry Vockley, Barbara K Burton, Gerard Berry, et al.
Page
of 30
Search research articles
Search
Showing results (231-240 of 295) with videos related to
Sort By:
Page
of 30
Molecular Genetics and Metabolism
|
December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Molecular Genetics and Metabolism
|
January 9, 2025
Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia
Oleg A Shchelochkov, Huw Davies, Robert P Mohney, et al.
Food & Function
|
June 7, 2021
Structure-activity relationship of avocadyne
Matthew Tcheng, Vitor L S Cunha, Nawaz Ahmed, et al.
The Journal of Biological Chemistry
|
October 15, 2013
Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site
Sivakama S Bharathi, Yuxun Zhang, Al-Walid Mohsen, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Translational Psychiatry
|
December 14, 2023
Metabolic features of treatment-refractory major depressive disorder with suicidal ideation
Lisa A Pan, Jane C Naviaux, Lin Wang, et al.
Molecular Genetics and Metabolism
|
March 8, 2024
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program
Erru Yang, Eliza Kruger, David Yin, et al.
Journal of Hepatology
|
July 30, 2010
Barriers to the successful treatment of liver disease by hepatocyte transplantation
Kyle A Soltys, Alejandro Soto-Gutiérrez, Masaki Nagaya, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
May 11, 2019
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo
Bartholomew P Roland, Kristen R Richards, Stacy L Hrizo, et al.
Journal of Inherited Metabolic Disease
|
June 5, 2023
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study
Jerry Vockley, Barbara K Burton, Gerard Berry, et al.
Page
of 30