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Items: 1 to 20 of 95

1.

Performance of succinylacetone assays and their associated proficiency testing outcomes.

Adam BW, Hall EM, Meredith NK, Lim TH, Haynes CA, De Jesus VR, Hannon WH.

Clin Biochem. 2012 Dec;45(18):1658-63. doi: 10.1016/j.clinbiochem.2012.08.007. Epub 2012 Aug 11.

2.

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.

3.

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.

De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):67-75. doi: 10.1016/j.ymgme.2014.07.010. Epub 2014 Jul 17.

4.

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.

Metz TF, Mechtler TP, Merk M, Gottschalk A, Lukačin R, Herkner KR, Kasper DC.

Clin Chim Acta. 2012 Aug 16;413(15-16):1259-64. doi: 10.1016/j.cca.2012.04.007. Epub 2012 Apr 12.

PMID:
22521492
5.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.

Mol Genet Metab. 2006 May;88(1):16-21. Epub 2006 Jan 31.

PMID:
16448836
6.

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.

7.

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.

Zytkovicz TH, Sahai I, Rush A, Odewale A, Johnson D, Fitzgerald E, Britton D, Eaton RB.

Clin Biochem. 2013 May;46(7-8):681-4. doi: 10.1016/j.clinbiochem.2013.02.002. Epub 2013 Feb 24.

PMID:
23462696
8.

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
9.

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.

Sander J, Janzen N, Peter M, Sander S, Steuerwald U, Holtkamp U, Schwahn B, Mayatepek E, Trefz FK, Das AM.

Clin Chem. 2006 Mar;52(3):482-7. Epub 2006 Jan 26.

10.

[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].

Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.

Zhonghua Er Ke Za Zhi. 2012 Feb;50(2):126-30. Chinese.

PMID:
22455637
11.

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
12.

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.

Al-Dirbashi OY, Rashed MS, Jacob M, Al-Ahaideb LY, Al-Amoudi M, Rahbeeni Z, Al-Sayed MM, Al-Hassnan Z, Al-Owain M, Al-Zeidan H.

Biomed Chromatogr. 2008 Nov;22(11):1181-5. doi: 10.1002/bmc.1049.

PMID:
18651606
13.

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

la Marca G, Malvagia S, Pasquini E, Innocenti M, Fernandez MR, Donati MA, Zammarchi E.

Rapid Commun Mass Spectrom. 2008;22(6):812-8. doi: 10.1002/rcm.3428.

PMID:
18278819
14.
15.

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

la Marca G, Malvagia S, Pasquini E, Cavicchi C, Morrone A, Ciani F, Funghini S, Villanelli F, Zammarchi E, Guerrini R.

JIMD Rep. 2011;1:107-9. doi: 10.1007/8904_2011_24. Epub 2011 Jun 22.

16.

Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Rashed MS, Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM, Al-Hassnan Z, Faqeih E.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 2;831(1-2):274-80. Epub 2005 Dec 27.

PMID:
16384749
17.

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

la Marca G, Malvagia S, Funghini S, Pasquini E, Moneti G, Guerrini R, Zammarchi E.

Rapid Commun Mass Spectrom. 2009 Dec;23(23):3891-3. doi: 10.1002/rcm.4289. No abstract available.

PMID:
19902423
18.

Newborn screening for Tyr-I: two years' experience of the New York State program.

Morrissey MA, Sunny S, Fahim A, Lubowski C, Caggana M.

Mol Genet Metab. 2011 Jun;103(2):191-2. doi: 10.1016/j.ymgme.2011.02.017. Epub 2011 Mar 1.

PMID:
21441051
19.

Evaluation of factors influencing accuracy in the analysis of succinylacetone in dried blood spots.

Peng M, Liu L, Peng L.

Clin Chim Acta. 2012 Aug 16;413(15-16):1265-9. doi: 10.1016/j.cca.2012.04.006. Epub 2012 Apr 12.

PMID:
22522056
20.

Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia.

Weigel JF, Janzen N, Pfäffle RW, Thiery J, Kiess W, Ceglarek U.

J Inherit Metab Dis. 2007 Aug;30(4):610. Epub 2007 Aug 10.

PMID:
17694358

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