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A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy

10 May 2019

Abstract excerpt

Minnesota became the fourth state to begin newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD) in 2017. As there is limited retrospective data available on NBS for X-ALD, we analyzed Minnesota's NBS results from the first year of screening. C26:0 lysophosphatidylcholine (C26:0-LPC) screening results of 67,836 infants and confirmatory testing (ABCD1 gene and serum VLCFA analysis) for screen positives...

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PMID: 31074578
DOI: 10.1002/ajmg.a.61171

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