Mental Deficiency—Retrospect and Prospect
نویسنده
چکیده
منابع مشابه
Phenylketonuria from Genetics to Clinics: An Iranian Prospect
Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...
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