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- W19614981 abstract "Many genetic diseases, especially the inborn errors of metabolism, have very low incidences, so developing a newborn screening test for each disease is not practical. This obstacle was overcome by employing the tandem mass spectrometry (MS/MS) technology. In the analysis, the samples can be injected directly into the flowing system without passing through a column, and both acylcarnitine and amino acid profiles can be obtained at the same time. MS/MS newborn screening has been shown to improve the outcome of patients affected by a number of inborn errors of metabolism. Recently, MS/MS analytical methods were developed for second-tier tests of newborn screening; new substrates have also been developed to measure the activity of lysosomal enzymes so lysosomal storage diseases can be diagnosed by MS/MS method now." @default.
- W19614981 created "2016-06-24" @default.
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- W19614981 date "2012-01-01" @default.
- W19614981 modified "2023-10-18" @default.
- W19614981 title "Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases" @default.
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- W19614981 doi "https://doi.org/10.1007/128_2012_354" @default.
- W19614981 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22911488" @default.
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