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Article

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2020

Turk Bela R, Theda Christiane, Fatemi Ali, Moser Ann B

Abstract excerpt

Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD,...

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Identifiers

PMID: 31909500
DOI: 10.1002/jdn.10003
PMCID: PMC7041623

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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