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经典型苯丙酮尿症(PKU)是由于苯丙氨酸羟化酶(PAH)基因突变导致,患儿有严重智力低下等表现。早期诊断与及时给予低苯丙氨酸饮食治疗可防
Classical phenylketonuria (PKU) is due to phenylalanine hydroxylase (PAH) gene mutations lead to children with severe mental retardation and other performance. Early diagnosis and timely delivery of low-phenylalanine diet can be prevented