Koeberl DD - Search Results

1

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. Among authors: koeberl dd. 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

2

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. El-Gharbawy AH, et al. Among authors: koeberl dd. Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16. Mol Genet Metab. 2013. PMID: 23583224

3

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS. Young SP, et al. Among authors: koeberl dd. Clin Chim Acta. 2003 Nov;337(1-2):103-13. doi: 10.1016/j.cccn.2003.07.006. Clin Chim Acta. 2003. PMID: 14568186

4

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM. Koeberl DD, et al. J Inherit Metab Dis. 2003;26(1):25-35. doi: 10.1023/a:1024015227863. J Inherit Metab Dis. 2003. PMID: 12872837

5

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Basinger AA, et al. Among authors: koeberl dd. Mol Genet Metab. 2006 May;88(1):90-2. doi: 10.1016/j.ymgme.2005.12.008. Epub 2006 Feb 8. Mol Genet Metab. 2006. PMID: 16466958

6

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. Among authors: koeberl dd. Gene Ther. 2006 Mar;13(5):457-62. doi: 10.1038/sj.gt.3302678. Gene Ther. 2006. PMID: 16319949 Free PMC article.

7

Age-related efficacy with an AAV vector in Fabry disease mice.

Koeberl DD. Koeberl DD. Mol Genet Metab. 2009 Mar;96(3):83-4. doi: 10.1016/j.ymgme.2008.10.014. Epub 2008 Dec 10. Mol Genet Metab. 2009. PMID: 19083254 No abstract available.

8

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Kishnani PS, et al. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003. Mol Genet Metab. 2010. PMID: 19775921 Free PMC article. Clinical Trial.

9

Activation of glycolysis and apoptosis in glycogen storage disease type Ia.

Sun B, Li S, Yang L, Damodaran T, Desai D, Diehl AM, Alzate O, Koeberl DD. Sun B, et al. Among authors: koeberl dd. Mol Genet Metab. 2009 Aug;97(4):267-71. doi: 10.1016/j.ymgme.2009.04.003. Epub 2009 Apr 10. Mol Genet Metab. 2009. PMID: 19419892

10

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS. Koeberl DD, et al. Mol Genet Metab. 2011 Jun;103(2):107-12. doi: 10.1016/j.ymgme.2011.02.006. Epub 2011 Feb 13. Mol Genet Metab. 2011. PMID: 21397538 Free PMC article.

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