Document Detail

Tandem spectrometry in newborn screening.
MedLine Citation:
PMID:  9848021     Owner:  NLM     Status:  MEDLINE    
Newborn screening for inborn errors of metabolism has improved the diagnosis and treatment of these disorders since the 1960s. Recently tandem mass spectrometry (MS/MS) was developed as a technique for expanding the scope and efficiency of newborn screening for inborn errors. It may offer more efficient identification of phenylketonuria, branched chain ketoaciduria (maple syrup urine disease) and homocystinuria, which are currently screened for by the use of bacterial inhibition assays. MS/MS also identifies analytes characteristic of disorders of fatty acid metabolism and organic acid metabolism, which are not identified in current programs. Recent studies indicate that MS/MS offers the opportunity to expand and advance newborn screening for inborn errors.
M R Seashore
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in pediatrics     Volume:  10     ISSN:  1040-8703     ISO Abbreviation:  Curr. Opin. Pediatr.     Publication Date:  1998 Dec 
Date Detail:
Created Date:  1999-02-08     Completed Date:  1999-02-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9000850     Medline TA:  Curr Opin Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  609-14     Citation Subset:  IM    
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / diagnosis*,  therapy
False Negative Reactions
False Positive Reactions
Infant, Newborn
Mass Spectrometry / methods*
Neonatal Screening / methods*
Reproducibility of Results
Sensitivity and Specificity

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