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Items: 1 to 20 of 21

1.

Newborn screening for metabolic disorders.

Waisbren SE.

JAMA. 2006 Aug 23;296(8):993-5. No abstract available.

PMID:
16926360
2.

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
3.

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
4.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.

Dezateux C.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S25-8. Epub 2003 Nov 20. Review.

PMID:
14628139
5.

[Mass Screening for Inborn Errors of Metabolism].

Ito T.

Rinsho Byori. 2015 Apr;63(4):441-9. Review. Japanese.

PMID:
26536777
6.

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
7.

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
8.

Universal screening for inherited metabolic diseases in the neonate (and the fetus).

Scala I, Parenti G, Andria G.

J Matern Fetal Neonatal Med. 2012 Oct;25(Suppl 5):4-6. doi: 10.3109/14767058.2012.716983. Review.

PMID:
23025760
9.

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Rhead WJ.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7. Review.

PMID:
16763904
10.

Genetics and medical practice: new approaches to "old" disorders.

Korf BR.

Curr Opin Pediatr. 2002 Dec;14(6):688-90. Review. No abstract available.

PMID:
12436036
11.

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
12.

Metabolic disorders of the newborn.

Goodman SI, Greene CL.

Pediatr Rev. 1994 Sep;15(9):359-65; quiz 365. Review. No abstract available.

PMID:
7971594
13.

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
14.

Expanded newborn screening for inborn errors of metabolism: overview and outcomes.

Sun A, Lam C, Wong DA.

Adv Pediatr. 2012;59(1):209-45. doi: 10.1016/j.yapd.2012.04.013. Review. No abstract available.

PMID:
22789580
15.

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

van Maldegem BT, Wanders RJ, Wijburg FA.

J Inherit Metab Dis. 2010 Oct;33(5):507-11. doi: 10.1007/s10545-010-9080-z. Epub 2010 Apr 29. Review.

16.

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.

17.

[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
18.

Clinical approach to the diagnoses of inborn errors of metabolism.

Kamboj M.

Pediatr Clin North Am. 2008 Oct;55(5):1113-27, viii. doi: 10.1016/j.pcl.2008.07.004. Review.

PMID:
18929055
19.

Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery.

Coates PM.

Prog Clin Biol Res. 1992;375:409-23. Review. No abstract available.

PMID:
1438385
20.

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

Schatz UA, Ensenauer R.

J Inherit Metab Dis. 2010 Oct;33(5):513-20. doi: 10.1007/s10545-010-9115-5. Epub 2010 Jun 8. Review.

PMID:
20532824

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