response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
Burton, B. K, Grange, D. K, Milanowski, A, Vockley, G, Feillet, F, Crombez, E. A, Abadie, V, Harding, C. O, Cederbaum, S, Dobbelaere, D, Smith, A, Dorenbaum, A
Published in Journal of inherited metabolic disease (01.10.2007)
Published in Journal of inherited metabolic disease (01.10.2007)
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Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2 8 vector-mediated gene therapy in murine phenylketonuria
HARDING, C. O, GILLINGHAM, M. B, HAMMAN, K, CLARK, H, GOEBEL-DAGHIGHI, E, BIRD, A, KOEBERL, D. D
Published in Gene therapy (01.03.2006)
Published in Gene therapy (01.03.2006)
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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders
Mokhtarani, M., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S.A., Gallagher, R., Bartholomew, D., Harding, C.O., Korson, M.S., McCandless, S.E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S., Dorrani, N., Merritt, J.L., Sreenath-Nagamani, Sandesh, Summar, M., LeMons, C., Dickinson, K., Coakley, D.F., Moors, T.L., Lee, B., Scharschmidt, B.F.
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Glutamine and hyperammonemic crises in patients with urea cycle disorders
Lee, B., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S.A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S.C., Berquist, W., Gallagher, R.C., Harding, C.O., McCandless, S.E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Published in Molecular genetics and metabolism (01.01.2016)
Published in Molecular genetics and metabolism (01.01.2016)
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Docosahexaenoic acid and retinal function in children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency
Harding, C. O., Gillingham, M. B., Calcar, S. C., Wolff, J. A., Verhoeve, J. N., Mills, M. D.
Published in Journal of inherited metabolic disease (01.05.1999)
Published in Journal of inherited metabolic disease (01.05.1999)
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Renal transplantation in a patient with methylmalonic acidaemia
Van Calcar, S. C., Harding, C. O., Lyne, P., Hogan, K., Banerjee, R., Sollinger, H., Rieselbach, R. E., Wolff, J. A.
Published in Journal of inherited metabolic disease (01.10.1998)
Published in Journal of inherited metabolic disease (01.10.1998)
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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
Antonicka, Hana, Leary, Scot C., Guercin, Guy-Hellen, Agar, Jeffrey N., Horvath, Rita, Kennaway, Nancy G., Harding, Cary O., Jaksch, Michaela, Shoubridge, Eric A.
Published in Human molecular genetics (15.10.2003)
Published in Human molecular genetics (15.10.2003)
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Long-term survival in typical thanatophoric dysplasia type 1
Baker, K M, Olson, D S, Harding, C O, Pauli, R M
Published in American journal of medical genetics (27.06.1997)
Published in American journal of medical genetics (27.06.1997)
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sar: A Genetic Mouse Model for Human Sarcosinemia Generated by Ethylnitrosourea Mutagenesis
Harding, Cary O., Williams, Phillip, Pflanzer, Denise M., Colwell, Robert E., Lyne, Paul W., Wolff, Jon A.
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1992)
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The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria
Harding, Cary O, Neff, Mark, Wild, Krzysztof, Jones, Kelly, Elzaouk, Lina, Thöny, Beat, Milstien, Sheldon
Published in Molecular genetics and metabolism (2004)
Published in Molecular genetics and metabolism (2004)
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Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility
Harding, C O, Williams, P, Wagner, E, Chang, D S, Wild, K, Colwell, R E, Wolff, J A
Published in The Journal of biological chemistry (09.05.1997)
Published in The Journal of biological chemistry (09.05.1997)
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P.43 Ketone supplementation before exercise in long-chain fatty acid oxidation disorder (LC-FAOD) patients suppressed lipolysis despite mild increases in blood ketones
Gregor, AN, Delerive, P, Cuenoud, B, Harding, CO, Gillingham, MB
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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