Article
Evolution of adrenoleukodystrophy model systems.
Journal of inherited metabolic disease - 1 May 2021
Montoro Roberto, Heine Vivi M, Kemp Stephan, Engelen Marc
Abstract excerpt
X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder affecting the adrenal glands, testes, spinal cord and brain. The disease is caused by mutations in the ABCD1 gene resulting in a defect in peroxisomal degradation of very long-chain fatty acids and their accumulation in plasma and tissues. Males with ALD have a near 100% life-time risk to develop myelopathy. The life-time prevalence to develop...
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