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KMID : 0367419660090020033
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Journal of Korean Pediatric Society
1966 Volume.9 No. 2 p.33 ~ p.38
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Clinical Observation on Three Cases of Phnylketonuia
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全宏弼/Chun, Geong Pil
徐永順/金在卿/徐世模/尹德鎭/Suh, Young Soon/Kim, Jai Kyung/Suh, Se Mo/Yun, Duk Jin
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Abstract
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3 cases of Phenylketonuria with mental retardation, irritability, seizure, eczema, fair skin, mousey odor and positive ferric chloride test in the urine were reported in Korean children for the first time. Two of them were brothers aged 3 years 5 months and 1 year 11 months. Paper chromatography in urine showed increased Phenylalanine level in both of them. They also had abnormal electroencephalogram. The third case was a 1 year 9 months old female.
The biochemical background, clinical symptoms and treatment of Phenylketonuria were briefly discussed.
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KEYWORD
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