Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid
metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes …

The autism spectrum disorders are a collective of conditions that have in common impaired
socialization and communication in association with stereotypic behaviors. The reported …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Objective We aimed to review the literature to determine the incidence and prevalence of
autism in epilepsy and epilepsy in autism, conditions that are often comorbid. Methods We …

Autism spectrum disorders are not rare; many primary care pediatricians care for several
children with autism spectrum disorders. Pediatricians play an important role in early …

Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely
by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists …

Autism is a complex, behaviorally defined, static disorder of the immature brain that is of
great concern to the practicing pediatrician because of an astonishing 556% reported …

Background Autism is a complex neurodevelopmental disorder that usually presents in early
childhood and that is thought to be influenced by genetic and environmental factors …

Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …