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Article

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.

Molecular genetics & genomic medicine - 1 Jan 2020

Luo Wen-Jiao, Wei Qiao, Dong Hai-Lin, Yan Yang-Tian, Chen Mei-Jiao, Li Hong-Fu

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long-chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging from asymptomatic type to rapidly progressive childhood cerebral form. However, no remarkable abnormality in cerebral white...

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PMID: 31777199
DOI: 10.1002/mgg3.1065
PMCID: PMC6978395

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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