The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
- PMID: 12204433
- DOI: 10.1016/s0009-8981(02)00238-3
The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
Similar articles
-
Tandem mass spectrometry: the tool of choice for diagnosing inborn errors of metabolism?Br J Biomed Sci. 2002;59(1):42-6. doi: 10.1080/09674845.2002.11783634. Br J Biomed Sci. 2002. PMID: 12000187 Review.
-
[Mass spectrometry and neonatal screening].Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):107-11. doi: 10.1684/abc.2014.1021. Ann Biol Clin (Paris). 2015. PMID: 25582727 Review. French.
-
Early diagnosis of inborn errors of metabolism. New technologies.Med Wieku Rozwoj. 2001 Jan-Mar;5(1):95-103. Med Wieku Rozwoj. 2001. PMID: 11276508
-
Newborn screening by tandem mass spectrometry: gaining experience.Clin Chem. 2001 Nov;47(11):1937-8. Clin Chem. 2001. PMID: 11673359 No abstract available.
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.N Engl J Med. 2003 Jun 5;348(23):2304-12. doi: 10.1056/NEJMoa025225. N Engl J Med. 2003. PMID: 12788994
Cited by
-
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.Orphanet J Rare Dis. 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6. Orphanet J Rare Dis. 2018. PMID: 30029694 Free PMC article.
-
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.J Inherit Metab Dis. 2012 May;35(3):431-5. doi: 10.1007/s10545-011-9405-6. Epub 2011 Oct 18. J Inherit Metab Dis. 2012. PMID: 22005781
-
Mass Spectrometry in Clinical Laboratory: Applications in Therapeutic Drug Monitoring and Toxicology.Methods Mol Biol. 2024;2737:1-13. doi: 10.1007/978-1-0716-3541-4_1. Methods Mol Biol. 2024. PMID: 38036805
-
Metabolomics of a neonatal cohort from the Alliance for Maternal and Newborn Health Improvement biorepository: Effect of preanalytical variables on reference intervals.PLoS One. 2023 Jan 6;18(1):e0279931. doi: 10.1371/journal.pone.0279931. eCollection 2023. PLoS One. 2023. PMID: 36607993 Free PMC article.
-
Introduction to Mass Spectrometry for Bimolecular Analysis in a Clinical Laboratory.Methods Mol Biol. 2022;2546:1-12. doi: 10.1007/978-1-0716-2565-1_1. Methods Mol Biol. 2022. PMID: 36127573
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical