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Article

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.

Journal of inherited metabolic disease - 1 Mar 2026

Lier Julia, Ponleitner Markus, Popp Denny, Schäfer Lisa, Küstermann Franziska, Meigen Christof, Kratzer Frank, Janda Joachim, Okun Jürgen, Jamra Rami Abou, Köhler Wolfgang, Bergner Caroline

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a rare monogenic disorder characterized by marked variability in clinical presentation, age at onset, and disease progression. A deeper understanding of its natural history and the relationship between biochemical markers and clinical phenotypes is essential for improving disease monitoring, patient counseling, and optimizing clinical trial design. In particular, the...

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Identifiers

PMID: 41853938
DOI: 10.1002/jimd.70176
PMCID: PMC13000868

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AACS

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