Young SP - Search Results

1

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. Among authors: young sp. 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

2

Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.

An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS. An Y, et al. Among authors: young sp. Anal Biochem. 2000 Dec 1;287(1):136-43. doi: 10.1006/abio.2000.4838. Anal Biochem. 2000. PMID: 11078593

3

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.

Young SP, Stevens RD, An Y, Chen YT, Millington DS. Young SP, et al. Anal Biochem. 2003 May 15;316(2):175-80. doi: 10.1016/s0003-2697(03)00056-3. Anal Biochem. 2003. PMID: 12711338

4

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. Clin Chim Acta. 2003 Nov;337(1-2):103-13. doi: 10.1016/j.cccn.2003.07.006. Clin Chim Acta. 2003. PMID: 14568186

5

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: young sp. Mol Ther. 2005 Jan;11(1):57-65. doi: 10.1016/j.ymthe.2004.10.004. Mol Ther. 2005. PMID: 15585406 Free article.

6

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, Chen YT. An Y, et al. Among authors: young sp. Mol Genet Metab. 2005 Aug;85(4):247-54. doi: 10.1016/j.ymgme.2005.03.010. Mol Genet Metab. 2005. PMID: 15886040

7

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: young sp. 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.

8

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.

Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D. Zhang H, et al. Among authors: young sp. Genet Med. 2006 May;8(5):302-6. doi: 10.1097/01.gim.0000217781.66786.9b. Genet Med. 2006. PMID: 16702880 Free article.

9

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Pedersen CB, et al. Among authors: young sp. Pediatr Res. 2006 Sep;60(3):315-20. doi: 10.1203/01.pdr.0000233085.72522.04. Epub 2006 Jul 20. Pediatr Res. 2006. PMID: 16857760

10

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: young sp. 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.

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