Article

Pediatric X-Linked Adrenoleukodystrophy: Phenotypes, Variants, and HSCT Outcomes

2026-02-24

Abstract excerpt

<title>Abstract</title> <p>Purpose: 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. <h4>Methods:</h4> We retrospectively reviewed 31...

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Literature Corpus work: 57778b34-a7c8-584d-a122-6c86905dbdbc
DOI: 10.21203/rs.3.rs-8883258/v1

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