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Items: 1 to 20 of 907

1.

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
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.

Long-term stability of amino acids and acylcarnitines in dried blood spots.

Strnadová KA, Holub M, Mühl A, Heinze G, Ratschmann R, Mascher H, Stöckler-Ipsiroglu S, Waldhauser F, Votava F, Lebl J, Bodamer OA.

Clin Chem. 2007 Apr;53(4):717-22. Epub 2007 Feb 1.

4.

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA.

Clin Chem. 2001 Oct;47(10):1763-8.

5.

Postnatal variations in blood free and acylcarnitines.

De T, Kruthika-Vinod TP, Nagaraja D, Christopher R.

J Clin Lab Anal. 2011;25(2):126-9. doi: 10.1002/jcla.20445.

PMID:
21438006
6.

ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.

Kobayashi H, Hasegawa Y, Endo M, Purevsuren J, Yamaguchi S.

J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Aug;855(1):80-7. Epub 2007 Feb 14.

PMID:
17301002
7.

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
8.

Differences between acylcarnitine profiles in plasma and bloodspots.

de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):116-21. doi: 10.1016/j.ymgme.2013.04.008. Epub 2013 Apr 13.

PMID:
23639448
9.

Precursor ion scan profiles of acylcarnitines by atmospheric pressure thermal desorption chemical ionization tandem mass spectrometry.

Paglia G, D'Apolito O, Corso G.

Rapid Commun Mass Spectrom. 2008 Dec;22(23):3809-15. doi: 10.1002/rcm.3799.

PMID:
18980266
10.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
12.

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.

Wilcken B, Wiley V, Sim KG, Carpenter K.

J Pediatr. 2001 Apr;138(4):581-4.

PMID:
11295726
13.

Short-term stability of amino acids and acylcarnitines in the dried blood spots used to screen newborns for metabolic disorders.

Golbahar J, Altayab DD, Carreon E.

J Med Screen. 2014 Mar;21(1):5-9. doi: 10.1177/0969141314525367. Epub 2014 Feb 14.

PMID:
24531510
14.

[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].

Delolme F, Vianey-Saban C, Guffon N, Favre-Bonvin J, Guibaud P, Becchi M, Mathieu M, Divry P.

Arch Pediatr. 1997 Sep;4(9):819-26. French.

PMID:
9345561
15.

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
16.
17.

Acylcarnitine analysis by tandem mass spectrometry.

Smith EH, Matern D.

Curr Protoc Hum Genet. 2010 Jan;Chapter 17:Unit 17.8.1-20. doi: 10.1002/0471142905.hg1708s64.

PMID:
20063265
18.

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
19.

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
20.

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.

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