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。
To understand the prevalence of thyroid hypofunction (CH) and phenylketonuria (PKU) among newborn in Penglai in order to find and treat them in time.
为了解蓬莱市新生儿甲状腺功能低下(CH)和苯丙酮尿症(pku)的发病情况，以便早期发现、及时治疗。
To explore the morbidity of Congenital hypothyroidism (CH) and phenylketonuria (PKU) among newborn in Heze city.
了解菏泽市新生儿甲状腺功能低下症(CH)与苯丙酮尿症(PKU)发病率。
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。
Objective to explore the incidence and distribution features of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Lianyungang area.
目的探讨连云港地区新生儿先天性甲状腺功能减退症(CH)及苯丙酮尿症(PKU)发病及分布特征。
Objective to understand the prevalence of thyroid hypofunction (CH) and phenylketonuria (PKU) among newborn in Penglai in order to find and treat them in time.
[目的]为了解蓬莱市新生儿甲状腺功能低下(CH)和苯丙酮尿症(pku)的发病情况，以便早期发现、及时治疗。
Objective]To explore the morbidity of Congenital hypothyroidism(CH) and phenylketonuria(PKU) among newborn in Heze city.
[目的]了解菏泽市新生儿甲状腺功能低下症（CH）与苯丙酮尿症（PKU）发病率。
Borsi Batki suffers from phenylketonuria (PKU), a metabolic disorder that if undetected, can lead to problems with brain development, progressive mental retardation, brain damage and seizures.
她患有苯丙酮酸尿症，这是一种先天性代谢异常病，会影响大脑发育、损伤脑部神经和损害智力。
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。
Objective: to explore effective dietary regimens in treating phenylketonuria (PKU) after summing up 20 years practice in 652 patients.
目的总结20年对652例苯丙酮尿症患儿进行低苯丙氨酸饮食治疗经验，探讨有效的饮食控制方案。
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。
Prenatal diagnosis was made for 4 women at 8~11 weeks pregnant who had given birth to phenylketonuria(PKU) babies.
应用基因短片段重复序列（STR）对4例曾生育过经典型苯丙酮尿症（PKU）患儿的孕妇，在妊娠8～11周进行产前诊断。
Prenatal diagnosis was made for 4 women at 8~11 weeks pregnant who had given birth to phenylketonuria(PKU) babies.
应用基因短片段重复序列（STR）对4例曾生育过经典型苯丙酮尿症（PKU）患儿的孕妇，在妊娠8～11周进行产前诊断。
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