Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort
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Background: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to accumulation of very long-chain fatty acids (VLCFAs). Plasma VLCFA measurement is central to ... ...
