Objective To describe the incidence of congenital hypothyroidism(CH)and phenylketonuria(PKU)in Maanshan city.

目的：报告先天性甲状腺功能低下症（CH）和苯丙酮尿症（PKU）的患病率。

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Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.

目的：研究内蒙古地区经典型苯丙酮尿症（PKU）苯丙氨酸羟化酶（PAH）基因突变的特点和频率，以提高该地区PKU的基因诊断率。

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Take the gene mutation that causes phenylketonuria, or PKU. People with the disease can't break down the amino acid phenylalanine, a problem that can lead to severe cognitive damage.

提取能导致苯丙酮尿症（PKU）的基因突变.患这种病的人不能分解氨基酸苯丙氨酸，这会导致严重的认知损坏。

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