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Article

Diagnosis of X-adrenoleucodystrophy phenotypic variants.

Acta neurologica Scandinavica - 1 Jun 1993

Coria F, García-Viejo M A, Delgado J A, Duarte J, Clavería L E, Girós M, Pampols T

Abstract excerpt

We report the radiological and biochemical data of a familial X-adrenoleucodystrophy with an extreme phenotypic variability, in which the diagnosis of several affected members was delayed for several years. The propositus developed a progressive dementia, while two of his brothers were diagnosed of primary Addison's disease several years previously. MRI in two cases with different phenotypes revealed hyperintense...

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Identifiers

PMID: 8356882
DOI: 10.1111/j.1600-0404.1993.tb04144.x

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