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Results: 1 to 20 of 108

Related Citations for PubMed (Select 21185274)

1.

Proficiency testing outcomes of 3-hydroxyisovalerylcarnitine measurements by tandem mass spectrometry in newborn screening.

Lim TH, De Jesús VR, Meredith NK, Sternberg MR, Chace DH, Mei JV, Hannon WH.

Clin Chim Acta. 2011 Mar 18;412(7-8):631-5. doi: 10.1016/j.cca.2010.12.021. Epub 2010 Dec 23.

PMID:
21185274
2.

Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry.

De Jesús VR, Chace DH, Lim TH, Mei JV, Hannon WH.

Clin Chim Acta. 2010 May 2;411(9-10):684-9. doi: 10.1016/j.cca.2010.01.034. Epub 2010 Feb 1.

PMID:
20122909
3.

Quantification of malonylcarnitine in dried blood spots by use of MS/MS varies by stable isotope internal standard composition.

Chace DH, Lim T, Hansen CR, Adam BW, Hannon WH.

Clin Chim Acta. 2009 Apr;402(1-2):14-8. doi: 10.1016/j.cca.2008.10.035. Epub 2008 Nov 13.

PMID:
19041298
4.

Preliminary proficiency testing results for succinylacetone in dried blood spots for newborn screening for tyrosinemia type I.

Adam BW, Lim TH, Hall EM, Hannon WH.

Clin Chem. 2009 Dec;55(12):2207-13. doi: 10.1373/clinchem.2009.133819. Epub 2009 Oct 22.

5.

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
6.

Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening.

De Jesús VR, Simms DA, Schiffer J, Kennedy M, Mei JV, Hannon WH.

Clin Chim Acta. 2010 Nov 11;411(21-22):1684-7. doi: 10.1016/j.cca.2010.06.029. Epub 2010 Jul 6.

PMID:
20619255
7.

A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening.

Gucciardi A, Pirillo P, Di Gangi IM, Naturale M, Giordano G.

Anal Bioanal Chem. 2012 Aug;404(3):741-51. doi: 10.1007/s00216-012-6194-1. Epub 2012 Jul 6.

PMID:
22766757
8.

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D.

Clin Chem. 2008 Apr;54(4):657-64. doi: 10.1373/clinchem.2007.101949. Epub 2008 Feb 15.

9.

Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry.

Vieira Neto E, Fonseca AA, Almeida RF, Figueiredo MP, Porto MA, Ribeiro MG.

Braz J Med Biol Res. 2012 Jun;45(6):546-56. Epub 2012 Apr 12.

10.

First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting.

Fingerhut R, Silva Polanco ML, Silva Arevalo Gde J, Swiderska MA.

Rapid Commun Mass Spectrom. 2014 Apr 30;28(8):965-73. doi: 10.1002/rcm.6856.

PMID:
24623702
11.

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.

J Inherit Metab Dis. 2003;26(1):25-35.

PMID:
12872837
12.

Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.

Shigematsu Y, Hata I, Tajima G.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S283-8. doi: 10.1007/s10545-010-9111-9. Epub 2010 May 4.

PMID:
20440648
13.

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH.

Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6.

14.

Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation.

Schulze A, Schmidt C, Kohlmüller D, Hoffmann GF, Mayatepek E.

Clin Chim Acta. 2003 Sep;335(1-2):137-45.

PMID:
12927695
15.

Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process.

Dhillon KS, Bhandal AS, Aznar CP, Lorey FW, Neogi P.

Clin Chim Acta. 2011 May 12;412(11-12):873-9. doi: 10.1016/j.cca.2010.12.028. Epub 2011 Jan 7.

PMID:
21216241
16.

A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis.

Miller JH 4th, Poston PA, Karnes HT.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Aug 15;903:142-9. doi: 10.1016/j.jchromb.2012.07.008. Epub 2012 Jul 20.

PMID:
22846691
17.

Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts.

Budner M, Surowiec Z, Fudalej P, Hozyasz KK.

Arch Oral Biol. 2013 May;58(5):459-61. doi: 10.1016/j.archoralbio.2012.10.013. Epub 2013 Feb 5.

PMID:
23395542
18.

Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.

Maeda Y, Ito T, Ohmi H, Yokoi K, Nakajima Y, Ueta A, Kurono Y, Togari H, Sugiyama N.

J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):154-9. Epub 2007 Dec 4.

PMID:
18088573
19.

Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters.

Chace DH, Lim T, Hansen CR, De Jesus VR, Hannon WH.

Clin Chim Acta. 2009 Sep;407(1-2):6-9. doi: 10.1016/j.cca.2009.06.017. Epub 2009 Jun 21.

PMID:
19545553
20.

Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.

Fingerhut R, Ensenauer R, Röschinger W, Arnecke R, Olgemöller B, Roscher AA.

Anal Chem. 2009 May 1;81(9):3571-5. doi: 10.1021/ac8022235.

PMID:
19323528
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