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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Jessica R. C. Priestley,Laura A. Adang, Sarah Drewes Williams,Uta Lichter-Konecki,Caitlin Menello,Nicole M. Engelhardt,James C. DiPerna, Brenda DiBoscio,Rebecca C. Ahrens-Nicklas,Andrew C. Edmondson,Francis Jeshira Reynoso Santos,Can Ficicioglu

International journal of neonatal screening（2022）

引用 14|浏览17
关键词
X-linked adrenoleukodystrophy,X-ALD,C26:0,ABCD1,newborn screening
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