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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| Main Authors: | , , , , , , |
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| Format: | Book |
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MDPI AG,
2022-04-01T00:00:00Z.
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