Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening
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Background: X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by a pathogenic variant of the ABCD1 gene, leading to impaired peroxisomal function and the accumulation of very long-chain fatty acids (VLCFAs). A... ...
