Young SP - Search Results

1

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J. Taylor JL, et al. Among authors: young sp. J Pediatr. 2019 Aug;211:193-200.e2. doi: 10.1016/j.jpeds.2019.04.027. Epub 2019 May 24. J Pediatr. 2019. PMID: 31133280

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

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

5

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

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

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.

8

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

9

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: young sp. 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

10

A convenient LC-MS method for assessment of glucose kinetics in vivo with D-[13C6]glucose as a tracer.

Zhang H, Stevens RD, Young SP, Surwit R, Georgiades A, Boston R, Millington DS. Zhang H, et al. Among authors: young sp. Clin Chem. 2009 Mar;55(3):527-32. doi: 10.1373/clinchem.2008.113654. Epub 2009 Jan 30. Clin Chem. 2009. PMID: 19181735 Free PMC article.

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