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Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

31 Jan 2020

Abstract excerpt

Importance: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was added to the US Recommended Uniform Screening Panel. Objective: To evaluate the performance of a single-tier newborn screening assay for X-ALD in North...

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PMID: 32003821
DOI: 10.1001/jamanetworkopen.2019.20356

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