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Items: 1 to 20 of 156

2.

Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.

Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW.

Clin Chem. 2001;47(7):1166-82. Erratum in: Clin Chem 2001 Sep;47(9):1748.

3.

[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Jin J, Gu XF.

Zhonghua Yi Xue Za Zhi. 2008 Aug 5;88(30):2122-6. Chinese.

PMID:
19080473
4.

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF.

J Inherit Metab Dis. 2007 Aug;30(4):507-14. Epub 2007 Mar 8.

PMID:
17347912
5.

Impact of inborn errors of metabolism on admission in a neonatal intensive care unit--a prospective cohort study.

Tu W, He J, Dai F, Wang X, Li Y.

Indian J Pediatr. 2012 Apr;79(4):494-500. doi: 10.1007/s12098-011-0464-3. Epub 2011 Jun 10.

PMID:
21660401
6.

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
8.

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
9.

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

Chace DH, Kalas TA, Naylor EW.

Clin Chem. 2003 Nov;49(11):1797-817. Review.

10.

UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.

Janzen N, Steuerwald U, Sander S, Terhardt M, Peter M, Sander J.

Clin Chim Acta. 2013 Jun 5;421:41-5. doi: 10.1016/j.cca.2013.03.001. Epub 2013 Mar 13.

PMID:
23499962
11.

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D.

Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4.

12.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P.

J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27.

PMID:
20978942
13.

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.

van Calcar SC, Gleason LA, Lindh H, Hoffman G, Rhead W, Vockley G, Wolff JA, Durkin MS.

WMJ. 2007 Feb;106(1):12-5.

14.

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF.

Clin Chem. 2001 Nov;47(11):1945-55.

15.

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.

Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S91-4. doi: 10.1007/s10545-009-9028-3. Epub 2010 Feb 16.

PMID:
20157782
16.

[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children].

Xie LJ, Zhu JX, Zhu XD, Li HJ, Han LS, Gu XF.

Zhongguo Dang Dai Er Ke Za Zhi. 2008 Feb;10(1):31-4. Chinese.

PMID:
18289467
17.

[Clinical analysis of organic acidemia in neonates from neonatal intensive care units].

Xu FL, Fan T, Duan JJ, Chen D.

Zhongguo Dang Dai Er Ke Za Zhi. 2012 May;14(5):336-9. Chinese.

18.

Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults.

Mueller P, Schulze A, Schindler I, Ethofer T, Buehrdel P, Ceglarek U.

Clin Chim Acta. 2003 Jan;327(1-2):47-57.

PMID:
12482618
19.

[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].

Wu SN, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Li XY, Xu H, Gu XF.

Zhonghua Yi Xue Za Zhi. 2013 Feb 26;93(8):561-5. Chinese.

PMID:
23663331
20.

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
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