Cary O. Harding

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 263 citations

Translational Medicine, Chronic Kidney Disease, Renal Pathology +5

Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs

Eunju Kang, Xinjian Wang, Rebecca Tippner-Hedges et al. · Cell stem cell · 2016 · 217 citations · Full text

Somatic Variant, Mitochondrial Function, Natural Sciences +7

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

Janet A. Thomas, Harvey L. Levy, Stephen Amato et al. · Molecular Genetics and Metabolism · 2018 · 175 citations · Full text

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6<i>R</i>‐tetrahydrobiopterin): a phase II, multicentre, open‐label, screening study

Barbara K. Burton, Dorothy K. Grange, Andrzej Milanowski et al. · Journal of Inherited Metabolic Disease · 2007 · 168 citations

Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl‐CoA dehydrogenase deficiency

Sven W. Sauer, Jürgen G. Okun, Gert Fricker et al. · Journal of Neurochemistry · 2006 · 162 citations