论文部分内容阅读
苯丙酮尿症一家３例报告童样华，刘长云，高鲁燕，魏晓平（附属医院儿科２６１０３１附属医院检验科）苯丙酮尿症（ＰＫＵ）是由苯丙氨酸代谢障碍所致的少见遗传病，同胞兄弟多人同患该病罕见。现将我们所见一家３例报告如下。１病例报告例１，男，６岁，因表情呆滞，经常...
Phenylketonuria a case of 3 cases Tong Tonghua, Liu Changyun, Gao Lanyan, Wei Xiaoping (Affiliated Hospital of Pediatrics, 261031 Affiliated Hospital Laboratory) phenylketonuria (PKU) is a rare genetic disease caused by phenylalanine metabolism disorders, siblings Brothers and people suffering from the disease rare. Now we see a report of three cases are as follows. 1 case report 1, male, 6 years old, due to dull expression, often ...