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Article

From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.

Lipids in health and disease - 11 Nov 2024

Zuo Xinxin, Chen Zeyu

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency. Despite advancements in understanding the mechanisms of X-ALD, its pathophysiology remains incompletely understood, complicating the development of effective treatments. This review provides a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39529100
DOI: 10.1186/s12944-024-02361-0
PMCID: PMC11552335

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