Harding CO - Search Results

1

Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.

Gao J, Chen J, De Domenico I, Koeller DM, Harding CO, Fleming RE, Koeberl DD, Enns CA. Gao J, et al. Among authors: harding co. Blood. 2010 Apr 22;115(16):3374-81. doi: 10.1182/blood-2009-09-245209. Epub 2010 Feb 22. Blood. 2010. PMID: 20177050 Free PMC article.

2

Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.

Harding CO, Gillingham MB, Hamman K, Clark H, Goebel-Daghighi E, Bird A, Koeberl DD. Harding CO, et al. Gene Ther. 2006 Mar;13(5):457-62. doi: 10.1038/sj.gt.3302678. Gene Ther. 2006. PMID: 16319949 Free PMC article.

3

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.

Sauer SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S. Sauer SW, et al. Among authors: harding co. J Neurochem. 2006 May;97(3):899-910. doi: 10.1111/j.1471-4159.2006.03813.x. Epub 2006 Mar 29. J Neurochem. 2006. PMID: 16573641 Free article.

4

Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets.

Geiger KE, Koeller DM, Harding CO, Huntington KL, Gillingham MB. Geiger KE, et al. Among authors: harding co. Nutr Res. 2016 Jan;36(1):101-8. doi: 10.1016/j.nutres.2015.11.007. Epub 2015 Nov 14. Nutr Res. 2016. PMID: 26773786

5

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Tsai AC, Hung YW, Harding C, Koeller DM, Wang J, Wong LC. Tsai AC, et al. Am J Med Genet A. 2017 Sep;173(9):2500-2504. doi: 10.1002/ajmg.a.38333. Epub 2017 Jun 28. Am J Med Genet A. 2017. PMID: 28657663

6

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Peña LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD; ACMG Therapeutics Committee. Electronic address: [email protected]. Peña LDM, et al. Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9. Genet Med. 2023. PMID: 37031408 Free PMC article. No abstract available.

7

Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria.

Hamman K, Clark H, Montini E, Al-Dhalimy M, Grompe M, Finegold M, Harding CO. Hamman K, et al. Among authors: harding co. Mol Ther. 2005 Aug;12(2):337-44. doi: 10.1016/j.ymthe.2005.03.025. Mol Ther. 2005. PMID: 16043102 Free PMC article.

8

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630

9

Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

Gessner BD, Gillingham MB, Johnson MA, Richards CS, Lambert WE, Sesser D, Rien LC, Hermerath CA, Skeels MR, Birch S, Harding CO, Wood T, Koeller DM. Gessner BD, et al. Among authors: harding co. J Pediatr. 2011 Jan;158(1):124-9. doi: 10.1016/j.jpeds.2010.07.031. Epub 2010 Sep 16. J Pediatr. 2011. PMID: 20843525

10

Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).

Hamman KJ, Winn SR, Harding CO. Hamman KJ, et al. Among authors: harding co. Mol Genet Metab. 2011 Nov;104(3):235-40. doi: 10.1016/j.ymgme.2011.07.027. Epub 2011 Aug 4. Mol Genet Metab. 2011. PMID: 21917493 Free PMC article.

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