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。
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.
苯丙氨酸脱氢酶因在临床上可用作苯丙酮尿症的检测用酶，工业上可用于合成手性氨基酸而越来越受到关注。
As phenylalanine dehydrogenase is used to determine the concentration of plasma phenylalanine for monitoring of phenylketonuria and synthesize L-amino acids, it is drawing more and more attention.
方法用荧光法测定新生儿滤纸干血片上的苯丙氨酸浓度以筛查苯丙酮尿症。
Methods Phenylalanine(phe) concentration in dried-blood spot specimens on filter paper was detected by fluorometric method.
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 study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.
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。
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.
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。
Objective: to explore effective dietary regimens in treating phenylketonuria (PKU) after summing up 20 years practice in 652 patients.
方法 应用高效液相层析仪对87例高苯丙氨酸血症者进行尿新蝶呤（N）和生物蝶呤（B）分析；
Methods Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography.
方法 应用高效液相层析仪对87例高苯丙氨酸血症者进行尿新蝶呤（N）和生物蝶呤（B）分析；
Methods Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography.
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