phenylketonuria PKU

Phenylalanine dehydrogenase ( EC 1.4.1.20) is employed for the determination of Phenylketonuria ( PKU) in the clinic.

苯丙氨酸脱氢酶（Phenylalanine dehydrogenase，EC1.4.1.20，简称PheDH）是临床苯丙酮尿症的检测用酶。

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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 Tetrahydrobiopterin ( BH4) is known to normalize blood phenylalanine levels in BH4 deficiency, but not in phenylketonuria ( PKU).

目的四氢生物蝶呤（BH4）可以使BH4缺乏症病人的血液苯丙氨酸水平正常化，但是对苯丙酮酸尿症（PKU）病人无效。

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Objective To observe the relationship between phenylalanine and brain delayed myelination in phenylketonuria ( PKU) with MRI.

目的应用MRI观察苯丙酮尿症（PKU）患儿脑髓鞘发育延迟与血苯丙氨酸（PHE）浓度的关系。

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To explore the morbidity 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.

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