Original paper
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Abstract
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) at an early age. If untreated, cerebral ALD is often fatal. Women with ALD are not at risk for adrenal insufficiency or cerebral ALD. Newborn screening for ALD in males enables prospective...
Paper Details
Title
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Published Date
Jun 17, 2020
Volume
8
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