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Article

Intra familial phenotypical variations in adrenoleukodystrophy.

Neurology India - 1 Jan 2000

Gosalakkal Jayaprakash, Balky Anand Prasad

Abstract excerpt

Adrenoleukodystrophy (ALD) is an X-linked recessively inherited peroxisomal disorder, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. It has a wide phenotypical variability ranging from symptomatic childhood cerebral form to the asymptomatic with biochemical defects only; sometimes within the same family. We report a family of three siblings...

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Source

Identifiers

PMID: 20228476
DOI: 10.4103/0028-3886.60418

Genes

ABCD1

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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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