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Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

18 Oct 2022

Abstract excerpt

Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty acids (VLCFA), including C26:0-lysophosphatidylcholine (C26:0-LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic intervention, thereby...

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PMID: 36256460
DOI: 10.1002/jimd.12571

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