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Article

X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.

Journal of human genetics - 1 Feb 2011

Shimozawa Nobuyuki, Honda Ayako, Kajiwara Naomi, Kozawa Sachi, Nagase Tomoko, Takemoto Yasuhiko, Suzuki Yasuyuki

Abstract excerpt

X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long-chain saturated fatty acids (VLCFA) in tissues and body fluids. We have established a Japanese referral center for the diagnosis of ALD, using VLCFA measurements and mutation analysis of the ABCD1 gene, and have identified 60 kinds of mutations in 69 Japanese ALD families, which included...

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Source

Identifiers

PMID: 21068741
DOI: 10.1038/jhg.2010.139

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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