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• W2077566881 abstract "The introduction of tandem mass spectrometry (MS/MS)1 into newborn screening programs during the past 15 years has been revolutionary, and it has resulted in a marked expansion of the number of detectable metabolic disorders, from a handful to more than 30(1). The majority of these are defects of amino acid and fatty acid transport and catabolism, and most are responsive to treatment. The success of this development has prompted much interest in further expansion of newborn screening programs, particularly for lysosomal storage disorders (LSDs) that cause significant morbidity and mortality. Until recently, these disorders received low priority(2) because of the lack of effective treatment and practicable screening methodologies. Enzyme replacement and bone marrow transplant therapies have become available for several LSDs, however, and other therapies are under development(3), giving new hope for affected individuals. Furthermore, the development of viable screening methods based on measurements of lysosomal enzyme activities in dried blood spots (DBS) has paved the way for newborn screening for these disorders(4).Enzyme activities of LSDs in DBS have been measured successfully both spectrofluorometrically, using substrates that release the fluorophore 4-methylumbelliferone(5)(6), and by tandem mass spectrometry, using substrates that are, for some of these assays, more closely related to or homologous with the natural enzyme precursors(7). The MS/MS method has the advantage that it can detect multiple enzyme products simultaneously because each product has a different m/z . In this issue of Clinical Chemistry , 2 papers(8)(9) address developments with MS/MS-based enzyme assays that bring the newborn screening option for LSDs a step closer to reality.Zhang et al.(8) describe substantial methodological improvements to the MS/MS-based method developed by Li et al.(7) for multiplex assays of up to 5 lysosomal enzyme activities. This assay …" @default.
• W2077566881 created "2016-06-24" @default.
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• W2077566881 date "2008-10-01" @default.
• W2077566881 modified "2023-10-14" @default.
• W2077566881 title "Rapid and Effective Screening for Lysosomal Storage Disease: How Close Are We?" @default.
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• W2077566881 doi "https://doi.org/10.1373/clinchem.2008.112110" @default.
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