Article

Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD

2026-07-02

Abstract excerpt

<h4>Objectives</h4> To determine whether boys with VUS detected through Newborn screening (NBS) for Adrenoleukodystrophy (ALD) develop adrenal insufficiency (aiALD) and cerebral ALD (cALD) at rates comparable to those with pathogenic variants, and to evaluate the relationship between C26:0-lysophosphatidylcholine (C26:0-LPC) levels and clinical outcomes. <h4>Methods</h4> We conducted a retrospective multicenter...

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Literature Corpus work: e0b49053-151b-5836-8da2-b19d341a483b
DOI: 10.64898/2026.06.30.26356979

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