Article
Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities.
Molecular genetics and metabolism - 1 May 2015
Sayson Bryan, Popurs Marioara Angela Moisa, Lafek Mirafe, Berkow Ruth, Stockler-Ipsiroglu Sylvia, van Karnebeek Clara D M
Abstract excerpt
BACKGROUND: Intellectual developmental disorders (IDD(1)), characterized by a significant impairment in cognitive function and behavior, affect 2.5% of the population and are associated with considerable morbidity and healthcare costs. Inborn errors of metabolism (IEM) currently constitute the largest group of genetic defects presenting with IDD, which are amenable to causal therapy. Recently, we created an...
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