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Pediatrics
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June 15, 2011
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening
Kyriakie Sarafoglou, Dietrich Matern, Krista Redlinger-Grosse, et al.
Molecular Genetics and Metabolism
|
June 18, 2003
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Melanie B Gillingham, William E Connor, Dietrich Matern, et al.
Molecular Genetics and Metabolism
|
March 6, 2025
D-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders
Ashley N Gregor, Philippe Delerive, Bernard Cuenoud, et al.
Molecular Genetics and Metabolism
|
October 14, 2020
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency
Daelyn Y Richards, Shelley R Winn, Sandra Dudley, et al.
Journal of Inherited Metabolic Disease
|
July 12, 2019
Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disorders
Melanie B Gillingham, Gabriela Elizondo, Annie Behrend, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2025
Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study
Cary O Harding, Kaleigh Bulloch Whitehall, Joshua Lilienstein, et al.
Molecular Therapy. Nucleic Acids
|
September 17, 2014
A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver
Lorena Gallego-Villar, Hiu Man Viecelli, Belén Pérez, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice
Shelley R Winn, Tanja Scherer, Beat Thöny, et al.
Molecular Therapy. Methods & Clinical Development
|
January 24, 2020
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria
Daelyn Y Richards, Shelley R Winn, Sandra Dudley, et al.
Journal of Inherited Metabolic Disease
|
January 15, 2021
Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride
Garen Gaston, Jon A Gangoiti, Shelley Winn, et al.
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of 12
Search research articles
Search
Showing results (41-50 of 113) with videos related to
Sort By:
Page
of 12
Pediatrics
|
June 15, 2011
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening
Kyriakie Sarafoglou, Dietrich Matern, Krista Redlinger-Grosse, et al.
Molecular Genetics and Metabolism
|
June 18, 2003
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Melanie B Gillingham, William E Connor, Dietrich Matern, et al.
Molecular Genetics and Metabolism
|
March 6, 2025
D-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders
Ashley N Gregor, Philippe Delerive, Bernard Cuenoud, et al.
Molecular Genetics and Metabolism
|
October 14, 2020
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency
Daelyn Y Richards, Shelley R Winn, Sandra Dudley, et al.
Journal of Inherited Metabolic Disease
|
July 12, 2019
Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disorders
Melanie B Gillingham, Gabriela Elizondo, Annie Behrend, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2025
Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study
Cary O Harding, Kaleigh Bulloch Whitehall, Joshua Lilienstein, et al.
Molecular Therapy. Nucleic Acids
|
September 17, 2014
A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver
Lorena Gallego-Villar, Hiu Man Viecelli, Belén Pérez, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice
Shelley R Winn, Tanja Scherer, Beat Thöny, et al.
Molecular Therapy. Methods & Clinical Development
|
January 24, 2020
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria
Daelyn Y Richards, Shelley R Winn, Sandra Dudley, et al.
Journal of Inherited Metabolic Disease
|
January 15, 2021
Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride
Garen Gaston, Jon A Gangoiti, Shelley Winn, et al.
Page
of 12