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Items: 1 to 20 of 23

1.

Tandem mass spectrometry in newborn screening. American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group.

American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group.

Genet Med. 2000 Jul-Aug;2(4):267-9. No abstract available.

PMID:
11252712
2.

Newborn screening and genetic testing.

Lloyd-Puryear MA, Forsman I.

J Obstet Gynecol Neonatal Nurs. 2002 Mar-Apr;31(2):200-7. Review.

PMID:
11926404
3.

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.

Chace DH, Kalas TA, Naylor EW.

Annu Rev Genomics Hum Genet. 2002;3:17-45. Epub 2002 Apr 15. Review.

PMID:
12142359
5.

Extended newborn screening: an update for the general paediatrician.

Coman D, Bhattacharya K.

J Paediatr Child Health. 2012 Feb;48(2):E68-72. doi: 10.1111/j.1440-1754.2011.02199.x. Epub 2011 Oct 21. Review.

PMID:
22017206
6.

An overview of newborn screening.

Levy PA.

J Dev Behav Pediatr. 2010 Sep;31(7):622-31. doi: 10.1097/DBP.0b013e3181eedf01. Review.

PMID:
20814260
7.

Newborn screening for inborn errors of metabolism: a systematic review.

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH.

Health Technol Assess. 1997;1(11):i-iv, 1-95. Review.

8.

Introduction to the newborn screening fact sheets.

Kaye CI; Committee on Genetics, Accurso F, La Franchi S, Lane PA, Northrup H, Pang S, Schaefer GB.

Pediatrics. 2006 Sep;118(3):1304-12. Review.

PMID:
16960984
9.

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
10.

[Screening of newborns for inborn errors of metabolism by tandem mass spectrometry].

Simonsen H.

Ugeskr Laeger. 2002 Nov 25;164(48):5607-12. Review. Danish.

PMID:
12523003
11.

Newborn screening for medium chain acyl CoA dehydrogenase deficiency.

Leonard JV, Dezateux C.

Arch Dis Child. 2009 Mar;94(3):235-8. doi: 10.1136/adc.2007.134957. Epub 2008 Oct 6. Review.

PMID:
18838415
12.

Genetics: newborn screening for MCAD deficiency.

Carroll JC, Gibbons CA, Blaine SM, Cremin C, Dorman H, Honeywell C, Meschino WS, Permaul J, Allanson J.

Can Fam Physician. 2009 May;55(5):487. Review. No abstract available.

13.

The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry.

Jones PM, Bennett MJ.

Clin Chim Acta. 2002 Oct;324(1-2):121-8. Review. No abstract available.

PMID:
12204433
14.

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.

Leung KC, Hammond JW, Chabra S, Carpenter KH, Potter M, Wilcken B.

J Pediatr. 1992 Dec;121(6):965-8. Review.

PMID:
1447668
15.

Tandem spectrometry in newborn screening.

Seashore MR.

Curr Opin Pediatr. 1998 Dec;10(6):609-14. Review.

PMID:
9848021
16.

A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing.

Chace DH, Kalas TA.

Clin Biochem. 2005 Apr;38(4):296-309. Review. Erratum in: Clin Biochem. 2005 May;38(5):495.

PMID:
15766731
17.

Genomics in newborn screening.

Landau YE, Lichter-Konecki U, Levy HL.

J Pediatr. 2014 Jan;164(1):14-9. doi: 10.1016/j.jpeds.2013.07.028. Epub 2013 Aug 27. Review. No abstract available.

PMID:
23992678
18.

Mass spectrometry in clinical chemistry: the case of newborn screening.

la Marca G.

J Pharm Biomed Anal. 2014 Dec;101:174-82. doi: 10.1016/j.jpba.2014.03.047. Epub 2014 Apr 28. Review.

PMID:
24844843
19.

Fatty acid oxidation defects.

von Döbeln U.

Acta Paediatr Suppl. 1993 Jun;82 Suppl 389:88-90. Review. No abstract available.

PMID:
8374203
20.

[Tandem mass spectrometry as screening for inborn errors of metabolism].

Campos H D.

Rev Med Chil. 2011 Oct;139(10):1356-64. doi: /S0034-98872011001000017. Epub 2012 Jan 3. Review. Spanish.

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