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