Inborn errors of urea synthesis lead to an accumulation of ammonia in blood and brain and result in high rates of mortality and neurodevelopmental disability. This study seeks to characterize the ...

Involvement of different brain dystrophin isoforms was assessed in 3 groups of young males diagnosed with DMD. On their first assessment, 43 of the 70 patients with DMD had normal intelligence ...

Intellectual disability is a disorder marked by below-average intellectual function and a lack of skills necessary for independent daily living. The condition begins in the developmental period. The ...