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Journal of Inherited Metabolic Disease|May 4, 2005
Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolismK M GibsonHepatology (Baltimore, Md.)|March 4, 2014
Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liverHiu Man Viecelli, Richard P Harbottle, Suet Ping Wong, et al.Molecular Genetics and Metabolism|November 16, 2025
Measuring dietary intake among participants with a urea cycle disorder using standard diet records or a novel food photography appElaine Sim, Ashley Gregor, Erin MacLeod, et al.Blood|February 24, 2010
Hepatocyte-targeted HFE and TFR2 control hepcidin expression in miceJunwei Gao, Juxing Chen, Ivana De Domenico, et al.Paediatric Drugs|November 1, 2019
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1Willem G van Ginkel, Iris L Rodenburg, Cary O Harding, et al.Molecular Genetics and Metabolism|July 22, 2022
Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 miceWillem G van Ginkel, Shelley R Winn, Sandra Dudley, et al.Journal of Child Neurology|August 15, 2002
Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic reportCatherine L Gallagher, Andrew J Waclawik, Brad R Beinlich, et al.Investigative Ophthalmology & Visual Science|September 16, 2024
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA VectorTiffany DeVine, Gabriela Elizondo, Garen Gaston, et al.Science Translational Medicine|June 10, 2021
Therapeutic liver repopulation by transient acetaminophen selection of gene-modified hepatocytesAnne Vonada, Amita Tiyaboonchai, Sean Nygaard, et al.Molecular Genetics and Metabolism|January 7, 2024
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial dataFran Rohr, Barbara Burton, Anne Dee, et al.Pageof 25