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• W3100144559 abstract "Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the accumulation of sulfatides. Newborn screening for MLD may be considered in the future as innovative treatments are advancing. We carried out a research study to assess the feasibility of screening MLD using dried blood spots (DBS) from de-identified newborns.To minimize the false-positive rate, a two-tier screening algorithm was designed. The primary test was to quantify C16:0-sulfatide in DBS by ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The screening cutoff was established based on the results from 15 MLD newborns to achieve 100% sensitivity. The secondary test was to measure the ARSA activity in DBS from newborns with abnormal C16:0-sulfatide levels. Only newborns that displayed both abnormal C16:0-sulfatide abundance and ARSA activity were considered screen positives.A total of 27,335 newborns were screened using this two-tier algorithm, and 2 high-risk cases were identified. ARSA gene sequencing identified these two high-risk subjects to be a MLD-affected patient and a heterozygote.Our study demonstrates that newborn screening for MLD is highly feasible in a real-world scenario with near 100% assay specificity." @default.
• W3100144559 created "2020-11-23" @default.
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• W3100144559 date "2021-03-01" @default.
• W3100144559 modified "2023-10-17" @default.
• W3100144559 title "Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots" @default.
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• W3100144559 doi "https://doi.org/10.1038/s41436-020-01017-5" @default.
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