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Items: 1 to 50 of 159

1.

Kinetic and cross-sectional studies on the genesis of hypoargininemia in severe pediatric falciparum malaria.

Rubach MP, Zhang H, Florence SM, Mukemba JP, Kalingonji AR, Anstey NM, Yeo TW, Lopansri BK, Thompson JW, Mwaikambo ED, Young S, Millington DS, Weinberg JB, Granger DL.

Infect Immun. 2019 Feb 4. pii: IAI.00655-18. doi: 10.1128/IAI.00655-18. [Epub ahead of print]

PMID:
30718287
2.

The Role of Technology in Newborn Screening.

Millington DS.

N C Med J. 2019 Jan-Feb;80(1):49-53. doi: 10.18043/ncm.80.1.49.

3.

Acetyl-l-carnitine deficiency in patients with major depressive disorder.

Nasca C, Bigio B, Lee FS, Young SP, Kautz MM, Albright A, Beasley J, Millington DS, Mathé AA, Kocsis JH, Murrough JW, McEwen BS, Rasgon N.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):8627-8632. doi: 10.1073/pnas.1801609115. Epub 2018 Jul 30.

4.

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.

Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1. Review.

5.

Response to Gelb et al.: "Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs".

Millington DS.

Mol Genet Metab Rep. 2017 Jul 6;12:98. doi: 10.1016/j.ymgmr.2017.06.008. eCollection 2017 Sep. No abstract available.

6.

Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs.

Millington DS, Bali DM.

Mol Genet Metab Rep. 2017 May 10;11:72-73. doi: 10.1016/j.ymgmr.2017.04.009. eCollection 2017 Jun. No abstract available.

7.

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F.

Clin Chem. 2016 Nov;62(11):1430-1438. Epub 2016 Sep 14. No abstract available.

8.

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.

JIMD Rep. 2015;19:67-73. doi: 10.1007/8904_2014_366. Epub 2015 Feb 15.

10.

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.

Ullal AJ, Millington DS, Bali DS.

Mol Genet Metab Rep. 2014 Oct 22;1:465-467. eCollection 2014.

11.

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Ullal AJ, Millington DS, Bali DS.

Mol Genet Metab Rep. 2014 Oct 22;1:461-464. eCollection 2014.

12.

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.

Hum Mol Genet. 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8.

PMID:
24847004
13.

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.

Graham C, Sista RS, Kleinert J, Wu N, Eckhardt A, Bali D, Millington DS, Pamula VK.

Clin Biochem. 2013 Dec;46(18):1889-91. doi: 10.1016/j.clinbiochem.2013.09.003. Epub 2013 Sep 11.

14.

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK.

Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.

15.

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.

Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16.

PMID:
23583224
16.

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Bali D, Millington DS, Pamula VK.

Mol Genet Metab. 2013 Jun;109(2):218-20. doi: 10.1016/j.ymgme.2013.03.010. Epub 2013 Mar 24.

17.

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

Zhang H, Young SP, Millington DS.

Curr Protoc Hum Genet. 2013;Chapter 17:Unit 17.12. doi: 10.1002/0471142905.hg1712s76.

PMID:
23315926
18.

Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.

Tolun AA, Scarbrough PM, Zhang H, McKillop JA, Wang F, Kishnani PS, Millington DS, Young SP, Il'yasova D.

Ann Epidemiol. 2012 Dec;22(12):892-4. doi: 10.1016/j.annepidem.2012.09.005. Epub 2012 Oct 11.

19.

Extraction and analysis of carnitine and acylcarnitines by electrospray ionization tandem mass spectrometry directly from dried blood and plasma spots using a novel autosampler.

Thompson JW, Zhang H, Smith P, Hillman S, Moseley MA, Millington DS.

Rapid Commun Mass Spectrom. 2012 Nov 15;26(21):2548-54. doi: 10.1002/rcm.6370.

PMID:
23008072
20.

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.

Auray-Blais C, Lavoie P, Zhang H, Gagnon R, Clarke JT, Maranda B, Young SP, An Y, Millington DS.

Clin Chim Acta. 2012 Apr 11;413(7-8):771-8. doi: 10.1016/j.cca.2012.01.012. Epub 2012 Jan 20.

PMID:
22285314
21.

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. doi: 10.1002/ajmg.c.31320. Epub 2012 Jan 17.

PMID:
22252961
22.

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS.

Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21.

PMID:
22227323
23.

Urinary F2-isoprostanes as a biomarker of reduced risk of type 2 diabetes.

Il'yasova D, Spasojevic I, Base K, Zhang H, Wang F, Young SP, Millington DS, D'Agostino RB Jr, Wagenknecht LE.

Diabetes Care. 2012 Jan;35(1):173-4. doi: 10.2337/dc11-1502. Epub 2011 Nov 18.

24.

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Sista RS, Eckhardt AE, Wang T, Graham C, Rouse JL, Norton SM, Srinivasan V, Pollack MG, Tolun AA, Bali D, Millington DS, Pamula VK.

Clin Chem. 2011 Oct;57(10):1444-51. doi: 10.1373/clinchem.2011.163139. Epub 2011 Aug 22.

25.

Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry.

Zhang H, Young SP, Auray-Blais C, Orchard PJ, Tolar J, Millington DS.

Clin Chem. 2011 Jul;57(7):1005-12. doi: 10.1373/clinchem.2010.161141. Epub 2011 May 16.

26.

Acylcarnitines: analysis in plasma and whole blood using tandem mass spectrometry.

Millington DS, Stevens RD.

Methods Mol Biol. 2011;708:55-72. doi: 10.1007/978-1-61737-985-7_3.

PMID:
21207283
27.

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.

Auray-Blais C, Bhérer P, Gagnon R, Young SP, Zhang HH, An Y, Clarke JT, Millington DS.

Mol Genet Metab. 2011 Jan;102(1):49-56. doi: 10.1016/j.ymgme.2010.09.003. Epub 2010 Sep 17.

PMID:
20934363
28.

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

Dessein AF, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Millington DS, Vianey-Saban C, Wanders RJ, Vamecq J.

Orphanet J Rare Dis. 2010 Oct 5;5:26. doi: 10.1186/1750-1172-5-26.

29.

Individual responses to chemotherapy-induced oxidative stress.

Il'yasova D, Kennedy K, Spasojevic I, Wang F, Tolun AA, Base K, Young SP, Kelly Marcom P, Marks J, Millington DS, Dewhirst MW.

Breast Cancer Res Treat. 2011 Jan;125(2):583-9. doi: 10.1007/s10549-010-1158-7. Epub 2010 Sep 10.

30.

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Auray-Blais C, Ntwari A, Clarke JT, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu WL, Keutzer JM, Zhang XK, Gagnon R.

Clin Chim Acta. 2010 Dec 14;411(23-24):1906-14. doi: 10.1016/j.cca.2010.07.038. Epub 2010 Aug 14.

PMID:
20716442
31.

Urinary biomarkers of oxidative status in a clinical model of oxidative assault.

Il'yasova D, Spasojevic I, Wang F, Tolun AA, Base K, Young SP, Marcom PK, Marks J, Mixon G, DiGiulio R, Millington DS.

Cancer Epidemiol Biomarkers Prev. 2010 Jun;19(6):1506-10. doi: 10.1158/1055-9965.EPI-10-0211. Epub 2010 May 25.

32.

Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry.

Tolun AA, Zhang H, Il'yasova D, Sztáray J, Young SP, Millington DS.

Anal Biochem. 2010 Jul 15;402(2):191-3. doi: 10.1016/j.ab.2010.03.033. Epub 2010 Mar 31.

33.

Digital microfluidics: a future technology in the newborn screening laboratory?

Millington DS, Sista R, Eckhardt A, Rouse J, Bali D, Goldberg R, Cotten M, Buckley R, Pamula V.

Semin Perinatol. 2010 Apr;34(2):163-9. doi: 10.1053/j.semperi.2009.12.008.

34.

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.

Anal Biochem. 2010 Apr 15;399(2):302-4. doi: 10.1016/j.ab.2009.12.024. Epub 2009 Dec 22.

35.

Hostility and minimal model of glucose kinetics in African American women.

Surwit RS, Lane JD, Millington DS, Zhang H, Feinglos MN, Minda S, Merwin R, Kuhn CM, Boston RC, Georgiades A.

Psychosom Med. 2009 Jul;71(6):646-51. doi: 10.1097/PSY.0b013e3181acee4c. Epub 2009 Jun 26.

36.

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS.

Muscle Nerve. 2009 Jul;40(1):32-6. doi: 10.1002/mus.21376.

PMID:
19533645
37.

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Young SP, Zhang H, Corzo D, Thurberg BL, Bali D, Kishnani PS, Millington DS.

Genet Med. 2009 Jul;11(7):536-41. doi: 10.1097/GIM.0b013e3181a87867.

PMID:
19521244
38.

Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

Auray-Blais C, Millington DS, Barr C, Young SP, Mills K, Clarke JT.

Mol Genet Metab. 2009 Jul;97(3):237. doi: 10.1016/j.ymgme.2009.04.006. Epub 2009 Apr 18. No abstract available.

PMID:
19428279
39.

A branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistance.

Newgard CB, An J, Bain JR, Muehlbauer MJ, Stevens RD, Lien LF, Haqq AM, Shah SH, Arlotto M, Slentz CA, Rochon J, Gallup D, Ilkayeva O, Wenner BR, Yancy WS Jr, Eisenson H, Musante G, Surwit RS, Millington DS, Butler MD, Svetkey LP.

Cell Metab. 2009 Apr;9(4):311-26. doi: 10.1016/j.cmet.2009.02.002. Erratum in: Cell Metab. 2009 Jun;9(6):565-6.

40.

The STEDMAN project: biophysical, biochemical and metabolic effects of a behavioral weight loss intervention during weight loss, maintenance, and regain.

Lien LF, Haqq AM, Arlotto M, Slentz CA, Muehlbauer MJ, McMahon RL, Rochon J, Gallup D, Bain JR, Ilkayeva O, Wenner BR, Stevens RD, Millington DS, Muoio DM, Butler MD, Newgard CB, Svetkey LP.

OMICS. 2009 Feb;13(1):21-35. doi: 10.1089/omi.2008.0035.

41.

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.

Clin Chem. 2009 Mar;55(3):527-32. doi: 10.1373/clinchem.2008.113654. Epub 2009 Jan 30.

42.

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.

Auray-Blais C, Millington DS, Young SP, Clarke JT, Schiffmann R.

J Inherit Metab Dis. 2009 Apr;32(2):303-8. doi: 10.1007/s10545-009-1055-6. Epub 2009 Jan 26.

PMID:
19169844
43.

Rapid and effective screening for lysosomal storage disease: how close are we?

Millington DS.

Clin Chem. 2008 Oct;54(10):1592-4. doi: 10.1373/clinchem.2008.112110. No abstract available.

44.

Brain-specific carnitine palmitoyl-transferase-1c: role in CNS fatty acid metabolism, food intake, and body weight.

Wolfgang MJ, Cha SH, Millington DS, Cline G, Shulman GI, Suwa A, Asaumi M, Kurama T, Shimokawa T, Lane MD.

J Neurochem. 2008 May;105(4):1550-9. doi: 10.1111/j.1471-4159.2008.05255.x. Epub 2008 Jan 28.

45.

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.

Pediatr Res. 2006 Sep;60(3):315-20. Epub 2006 Jul 20.

PMID:
16857760
46.

Naming and counting disorders (conditions) included in newborn screening panels.

Sweetman L, Millington DS, Therrell BL, Hannon WH, Popovich B, Watson MS, Mann MY, Lloyd-Puryear MA, van Dyck PC.

Pediatrics. 2006 May;117(5 Pt 2):S308-14.

PMID:
16735257
47.

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.

Genet Med. 2006 May;8(5):302-6.

PMID:
16702880
48.

Pompe disease diagnosis and management guideline.

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS.

Genet Med. 2006 May;8(5):267-88. No abstract available. Erratum in: Genet Med. 2006 Jun;8(6):382. ACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E].

49.

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.

Koeberl DD, Sun BD, Damodaran TV, Brown T, Millington DS, Benjamin DK Jr, Bird A, Schneider A, Hillman S, Jackson M, Beaty RM, Chen YT.

Gene Ther. 2006 Sep;13(17):1281-9. Epub 2006 May 4. Erratum in: Gene Ther. 2007 Feb;14(3):281. Gene Ther. 2006 Oct;13(19):1430.

PMID:
16672983
50.

The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.

Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J.

J Inherit Metab Dis. 2006 Feb;29(1):76-85.

PMID:
16601872

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