Pediatric X-linked adrenoleukodystrophy: phenotypes, variants, and HSCT outcomes.

Abstract excerpt

X-linked adrenoleukodystrophy (ALD) presents variable neurologic and adrenal manifestations. Early diagnosis is critical for effective hematopoietic stem cell transplantation (HSCT). This study aims to characterize clinical phenotypes, expand the ABCD1 mutational spectrum, and evaluate HSCT outcomes in a Chinese pediatric cohort. We retrospectively reviewed 31 male children diagnosed with ALD from 2015 to 2023....

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