Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0086-7
Abstract: BackgroundCerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability… read more here.
Keywords: frequent feature; xanthomatosis; ctx; spectrum disorder ... See more keywords