Articles with "abcd1 pathogenic" as a keyword



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Asymptomatic adrenoleukodystrophy in elderly males

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Published in 2020 at "Journal of Neurology"

DOI: 10.1007/s00415-020-09834-z

Abstract: Dear Sirs Adrenoleukodystrophy (ALD) is an X-linked disease caused by ABCD1 pathogenic variants. In males, ALD is clinically characterized by a wide phenotypic spectrum ranging from the most severe childhood cerebral form to Addison-only phenotype.… read more here.

Keywords: asymptomatic adrenoleukodystrophy; pathogenic variants; adrenal failure; neurological examination ... See more keywords