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Molecular Genetics and Metabolism|January 20, 2004
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuriaCary O Harding, Mark Neff, Krzysztof Wild, et al.
Molecular Genetics and Metabolism|March 31, 2012
Observations regarding retinopathy in mitochondrial trifunctional protein deficienciesAutumn L Fletcher, Mark E Pennesi, Cary O Harding, et al.
Molecular Genetics and Metabolism|September 26, 2006
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiencyMelanie B Gillingham, Jonathan Q Purnell, Julia Jordan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 27, 2005
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuriaKelly Hamman, Heather Clark, Eugenio Montini, et al.
Pediatrics|June 15, 2011
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screeningKyriakie 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 deficiencyMelanie 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 disordersAshley 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) deficiencyDaelyn 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 disordersMelanie 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 studyCary O Harding, Kaleigh Bulloch Whitehall, Joshua Lilienstein, et al.
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