Millington DS - Search Results

1

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ. Houten SM, et al. Among authors: millington ds. Hum Mol Genet. 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8. Hum Mol Genet. 2014. PMID: 24847004

2

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN. Pomerantz DJ, et al. Among authors: millington ds. Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1. Am J Med Genet A. 2018. PMID: 29388319 Free PMC article. Review.

3

Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Zhang H, Young SP, Millington DS. Zhang H, et al. Among authors: millington ds. Curr Protoc Hum Genet. 2013;Chapter 17:Unit 17.12. doi: 10.1002/0471142905.hg1712s76. Curr Protoc Hum Genet. 2013. PMID: 23315926

4

A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses.

Zhang H, Wood T, Young SP, Millington DS. Zhang H, et al. Among authors: millington ds. Mol Genet Metab. 2015 Feb;114(2):123-8. doi: 10.1016/j.ymgme.2014.09.009. Epub 2014 Oct 5. Mol Genet Metab. 2015. PMID: 25458519

5

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: millington ds. 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

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: millington ds. Mol Genet Metab. 2005 Aug;85(4):247-54. doi: 10.1016/j.ymgme.2005.03.010. Mol Genet Metab. 2005. PMID: 15886040

7

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

8

Quantification of the oxidative damage biomarker 2,3-dinor-8-isoprostaglandin-F(2alpha) in human urine using liquid chromatography-tandem mass spectrometry.

Zhang H, Il'yasova D, Sztaray J, Young SP, Wang F, Millington DS. Zhang H, et al. Among authors: millington ds. Anal Biochem. 2010 Apr 15;399(2):302-4. doi: 10.1016/j.ab.2009.12.024. Epub 2009 Dec 22. Anal Biochem. 2010. PMID: 20026293 Free PMC article.

9

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: millington ds. 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

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: millington ds. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

183 results

Search Page