Koeberl DD - Search Results

1

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, Kishnani PS. Case LE, et al. Among authors: koeberl dd. Mol Genet Metab. 2008 Dec;95(4):233-5. doi: 10.1016/j.ymgme.2008.09.001. Epub 2008 Oct 18. Mol Genet Metab. 2008. PMID: 18930676

2

Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).

Kishnani PS, Faulkner E, VanCamp S, Jackson M, Brown T, Boney A, Koeberl D, Chen YT. Kishnani PS, et al. Vet Pathol. 2001 Jan;38(1):83-91. doi: 10.1354/vp.38-1-83. Vet Pathol. 2001. PMID: 11199168

3

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.

Beaty RM, Jackson M, Peterson D, Bird A, Brown T, Benjamin DK Jr, Juopperi T, Kishnani P, Boney A, Chen YT, Koeberl DD. Beaty RM, et al. Among authors: koeberl dd. Gene Ther. 2002 Aug;9(15):1015-22. doi: 10.1038/sj.gt.3301728. Gene Ther. 2002. PMID: 12101432

4

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Koeberl DD, et al. Pediatr Res. 2003 Aug;54(2):219-23. doi: 10.1203/01.PDR.0000074972.36356.89. Epub 2003 May 7. Pediatr Res. 2003. PMID: 12736383

5

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

6

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

7

Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.

Sun B, Zhang H, Franco LM, Young SP, Schneider A, Bird A, Amalfitano A, Chen YT, Koeberl DD. Sun B, et al. Among authors: koeberl dd. Mol Ther. 2005 Jan;11(1):57-65. doi: 10.1016/j.ymthe.2004.10.004. Mol Ther. 2005. PMID: 15585406 Free article.

8

Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

Franco LM, Sun B, Yang X, Bird A, Zhang H, Schneider A, Brown T, Young SP, Clay TM, Amalfitano A, Chen YT, Koeberl DD. Franco LM, et al. Among authors: koeberl dd. Mol Ther. 2005 Nov;12(5):876-84. doi: 10.1016/j.ymthe.2005.04.024. Epub 2005 Jul 6. Mol Ther. 2005. PMID: 16005263 Free article.

9

Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.

Sun B, Zhang H, Benjamin DK Jr, Brown T, Bird A, Young SP, McVie-Wylie A, Chen YT, Koeberl DD. Sun B, et al. Among authors: koeberl dd. Mol Ther. 2006 Dec;14(6):822-30. doi: 10.1016/j.ymthe.2006.08.001. Epub 2006 Sep 20. Mol Ther. 2006. PMID: 16987711 Free PMC article.

10

Glycogen storage disease types I and II: treatment updates.

Koeberl DD, Kishnani PS, Chen YT. Koeberl DD, et al. J Inherit Metab Dis. 2007 Apr;30(2):159-64. doi: 10.1007/s10545-007-0519-9. Epub 2007 Feb 16. J Inherit Metab Dis. 2007. PMID: 17308886 Free PMC article. Review.

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