Article
[Phenotype variability in adrenoleukodystrophy. Presentation of three new cases and a review of literature].
Revista de neurologia - 1 Jul 1996
Ara J R, Carod F J, Errea J M, Giménez-Más J A, Girós M, Marzo M E, Manubens J M
Abstract excerpt
INTRODUCTION: Adrenoleukodystrophy is a hereditary recessive sex-linked disorder with very variable phenotype expression, including classical infantil ALD, adrenomyeloneuropathy (AMN) in adults and sex-linked Addison's disease. Clinical observations. Three affected patients are presented. The first showed signs of myeloneuropathy from the age of 38 and diagnosis was made by showing raised serum and fibroblasts...
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