
Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort
Introduction X-linked adrenoleukodystrophy (X-ALD, MIM #300100) is a peroxisomal disorder characterized by impaired β-oxidation, leading to the accumulation of very long-chain fatty acids (VLCFAs) in all tissues.1 X-ALD is an X-linked recessive condition …