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

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

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in <i>ABCD1</i>, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes. The childhood cerebral form of the...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:International Journal of Neonatal Screening
Subjects:
X-linked adrenoleukodystrophy
X-ALD
C26:0
<i>ABCD1</i>
newborn screening
Online Access:https://www.mdpi.com/2409-515X/8/2/24

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