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Article

Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family.

Journal of neurology - 1 Feb 1992

Zwetsloot C P, Padberg G W, van Seters A P, Maaswinkel-Mooy P D, Onkenhout W

Abstract excerpt

A large family with adrenoleukodystrophy is described and the case histories of two clinically symptomatic and related male patients are presented. Clinical, biochemical and genetic screening of their family demonstrated two clinically affected males, one biochemically affected male and five carrier females. Two women were symptomatic; one suffered an acute exacerbation. One female was diagnosed as a carrier,...

Topics

Adrenocorticotropic Hormone
Adrenoleukodystrophy
Aged
DNA
Diagnostic Errors
Fatty Acids
Female
Genetic Carrier Screening
Humans
Hydrocortisone
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Multiple Sclerosis

Pedigree

Phenotype

Sex Hormone-Binding Globulin

Source

Identifiers

PMID: 1313076
DOI: 10.1007/BF00862985

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1313076-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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