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

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...

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Опубликовано в: :Am J Med Genet A
Главные авторы: Wiens, Katie, Berry, Susan A., Choi, Hyoung, Gaviglio, Amy, Gupta, Ashish, Hietala, Amy, Kenney‐Jung, Daniel, Lund, Troy, Miller, Weston, Pierpont, Elizabeth I., Raymond, Gerald, Winslow, Holly, Zierhut, Heather A., Orchard, Paul J.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2019
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6619352/
https://ncbi.nlm.nih.gov/pubmed/31074578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61171
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