Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
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DOI: 10.1002/jimd.12571
Abstract: 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… read more here.
Keywords: specific newborn; linked adrenoleukodystrophy; c26 lpc; sex ... See more keywords