Response to Gelb et al.: “Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs”
نویسنده
چکیده
منابع مشابه
High-throughput assay of 9 lysosomal enzymes for newborn screening.
BACKGROUND There is interest in newborn screening of lysosomal storage diseases (LSDs) because of the availability of treatments. Pilot studies have used tandem mass spectrometry with flow injection of samples to achieve multiplex detection of enzyme products. We report a multiplexing method of 9 enzymatic assays that uses HPLC-tandem mass spectrometry (MS/MS). METHODS The assay of 9 enzymes ...
متن کاملComparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs
Sir while we have no issues with the data presented in the Letter to the Editor [1], we are compelled to give an alternative conclusion. The majority of newborn labs set their own screen cutoffs, and Illinois uses much higher cutoffs than Missouri. It is only meaningful to compare the number of below-cutoff enzyme activity samples with the use of equivalent cutoffs [2–4]. For example, for mucop...
متن کاملDataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal st...
متن کاملUse of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population
BACKGROUND We evaluated the performance of multiplex tandem mass spectrometry (MS/MS) in newborn screening for detection of 6 lysosomal storage disorders (LSDs), namely, Niemann-Pick A/B, Krabbe, Gaucher, Fabry, and Pompe diseases and Hurler syndrome. METHODS We revised the conditions and procedures of multiplex enzyme assay for the MS/MS analysis and determined the precision of our enzyme as...
متن کاملTandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.
Enzymes in Dried Blood Spots: Application to Newborn Screening for Krabbe Disease, Yijun Li, Knut Brockmann, Frantisek Turecek, C. Ronald Scott, and Michael H. Gelb (Departments of 1 Chemistry, 3 Pediatrics, and 4 Biochemistry, University of Washington, Seattle, WA; 2 Department of Pediatrics and Neuropediatrics, Children’s Hospital, University of Goettingen, Goettingen, Germany; * address corr...
متن کامل