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• W2078665148 abstract "The first newborn screen was a clinical test to detect a disorder of the biochemistry of the amino acid, phenylalanine. This disorder, known as phenylketonuria, produces profound mental retardation if not detected and treated early in life. Early screening programs relied on inexpensive population screening techniques that have all but been replaced by more accurate analytical methods such as tandem mass spectrometry (MS/MS). MS/MS enables a multianalyte approach for detecting biochemical disorders such that a metabolic profile is obtained rather than a single analyte measurement. The metabolic profile has clearly shown improvements in the detection of diseases such as phenylketonuria and several new disorders arising from errors in fatty acid oxidation and organic acid metabolism. MS/MS is a powerful tool for accessing the metabolic status of a newborn and can detect both inborn metabolic errors as well as examine the effect of acquired diseases or pharmacologic intervention on intermediary metabolism." @default.
• W2078665148 created "2016-06-24" @default.
• W2078665148 creator A5014341674 @default.
• W2078665148 creator A5080601447 @default.
• W2078665148 date "2005-04-01" @default.
• W2078665148 modified "2023-10-10" @default.
• W2078665148 title "A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing" @default.
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• W2078665148 doi "https://doi.org/10.1016/j.clinbiochem.2005.01.017" @default.
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