Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in <i>ABCD1</i> resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly...

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Bibliographic Details
Main Authors: Craig V. Baker, Alyssa Cady Keller, Richard Lutz, Karen Eveans, Krystal Baumert, James C. DiPerna, William B. Rizzo
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Neonatal Screening
Subjects:
adrenoleukodystrophy
adrenomyeloneuropathy
newborn screening
X-ALD
<i>ABCD1</i>
peroxisomal fatty acid oxidation
Online Access:https://www.mdpi.com/2409-515X/8/2/29

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https://www.mdpi.com/2409-515X/8/2/29

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