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

26 Apr 2022

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 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 progressive demyelinating disease in mid-childhood (childhood cerebral X-ALD, ccALD) or an adult-onset spastic paraparesis...

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PMID: 35645283
DOI: 10.3390/ijns8020029

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