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Items: 1 to 20 of 71

1.

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.

Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF.

Orphanet J Rare Dis. 2011 Jun 20;6:44. doi: 10.1186/1750-1172-6-44.

2.

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.

3.

[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
4.

Inborn errors of metabolism and expanded newborn screening: review and update.

Mak CM, Lee HC, Chan AY, Lam CW.

Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62. doi: 10.3109/10408363.2013.847896. Review.

PMID:
24295058
5.

Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, Nicholl J, Nicholson P, Tunaley JR, Virdi NK.

Health Technol Assess. 1997;1(7):i-iv, 1-202. Review.

6.

Newborn screening.

Wilcken B, Wiley V.

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

PMID:
18203033
7.

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
8.

[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.

9.

Metabolic screening for the newborn.

Parini R, Corbetta C.

J Matern Fetal Neonatal Med. 2011 Oct;24 Suppl 2:6-8. doi: 10.3109/14767058.2011.606617. Review.

PMID:
21770861
10.

A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

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

J Public Health Med. 1998 Sep;20(3):331-43. Review.

PMID:
9793900
11.

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S.

Health Technol Assess. 2004 Mar;8(12):iii, 1-121. Review.

12.

Data required for the evaluation of newborn screening programmes.

Liebl B, Nennstiel-Ratzel U, Roscher A, von Kries R.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S57-61. Epub 2003 Nov 13. Review.

PMID:
14615887
13.

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
14.

Biochemical findings in common inborn errors of metabolism.

Pasquali M, Monsen G, Richardson L, Alston M, Longo N.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. Review.

PMID:
16602099
15.

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.

Lindner M, Hoffmann GF, Matern D.

J Inherit Metab Dis. 2010 Oct;33(5):521-6. doi: 10.1007/s10545-010-9076-8. Epub 2010 Apr 7. Review.

PMID:
20373143
16.

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
17.

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
18.

Newborn screening and renal disease: where we have been; where we are now; where we are going.

Merritt JL 2nd, Askenazi D, Hahn SH.

Pediatr Nephrol. 2012 Sep;27(9):1453-64. doi: 10.1007/s00467-011-1995-6. Epub 2011 Sep 27. Review.

PMID:
21947256
19.

Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.

Bishop Hubbard H.

Policy Polit Nurs Pract. 2007 Aug;8(3):201-9. doi: 10.1177/1527154407303498. Review.

PMID:
18178927
20.

[Neonatal screening by tandem mass spectrometry: an update].

Campos Hernández D.

Rev Panam Salud Publica. 2010 Apr;27(4):309-17. Review. Spanish.

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