关键词:苯丙酮尿症 苯丙酮尿症(phenylketonuria PKU)是较常见的氨基酸代谢异常性疾病之一。本症系因先天性苯丙氨酸羟化酶缺乏,使苯丙氨酸羟化为酪氨酸的过程受阻,造成辰丙氨酸及其...
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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。
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。
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