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Items: 19

1.

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
2.

Dried blood spot sampling in combination with LC-MS/MS for quantitative analysis of small molecules.

Li W, Tse FL.

Biomed Chromatogr. 2010 Jan;24(1):49-65. doi: 10.1002/bmc.1367. Review.

PMID:
20017122
3.

Application of electrospray tandem mass spectrometry to neonatal screening.

Rashed MS, Rahbeeni Z, Ozand PT.

Semin Perinatol. 1999 Apr;23(2):183-93. Review.

PMID:
10331469
4.

Newborn screening.

Wilcken B, Wiley V.

Pathology. 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. Review.

PMID:
18203033
5.

Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.

Banta-Wright SA, Steiner RD.

J Perinat Neonatal Nurs. 2004 Jan-Mar;18(1):41-58; quiz 59-60. Review.

PMID:
15027667
6.

LC-MS/MS progress in newborn screening.

Lehotay DC, Hall P, Lepage J, Eichhorst JC, Etter ML, Greenberg CR.

Clin Biochem. 2011 Jan;44(1):21-31. doi: 10.1016/j.clinbiochem.2010.08.007. Epub 2010 Aug 13. Review.

PMID:
20709048
7.

Tyrosinemia type 1: an overview of nursing care.

Barnby E.

Pediatr Nurs. 2014 Mar-Apr;40(2):61-8, 90. Review.

PMID:
24941508
8.

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. Review.

PMID:
16046200
9.

Recent methodological advances in the mass spectrometric analysis of free and protein-associated 3-nitrotyrosine in human plasma.

Tsikas D, Caidahl K.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jan 5;814(1):1-9. Review.

PMID:
15607702
10.

Altered metabolism and newborn screening using tandem mass spectrometry: lessons learned from the bench to bedside.

Chace DH, Spitzer AR.

Curr Pharm Biotechnol. 2011 Jul;12(7):965-75. Review.

PMID:
21466463
11.

Hepatorenal tyrosinemia.

Kitagawa T.

Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(5):192-200. Review.

12.

A primer on expanded newborn screening by tandem mass spectrometry.

McCandless SE.

Prim Care. 2004 Sep;31(3):583-604, ix-x. Review.

PMID:
15331249
13.

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.

van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM.

J Clin Immunol. 2015 May;35(4):416-30. doi: 10.1007/s10875-015-0152-6. Epub 2015 Apr 17. Review.

14.

Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S.

Orphanet J Rare Dis. 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. Review.

15.

The pathophysiology and treatment of hereditary tyrosinemia type 1.

Grompe M.

Semin Liver Dis. 2001 Nov;21(4):563-71. Review.

PMID:
11745044
16.

Dried blood spots in toxicology: from the cradle to the grave?

Stove CP, Ingels AS, De Kesel PM, Lambert WE.

Crit Rev Toxicol. 2012 Mar;42(3):230-43. doi: 10.3109/10408444.2011.650790. Review.

PMID:
22348353
17.

Diagnosis and treatment of hereditary tyrosinemia in Japan.

Nakamura K, Matsumoto S, Mitsubuchi H, Endo F.

Pediatr Int. 2015;57(1):37-40. doi: 10.1111/ped.12550. Review.

PMID:
25443793
18.

Newborn screening for severe combined immunodeficiency (SCID): a review.

Huang H, Manton KG.

Front Biosci. 2005 May 1;10:1024-39. Review.

PMID:
15769602
19.

[Tyrosinemia].

Endo F.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):773-5. Review. Japanese. No abstract available.

PMID:
11529017

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