| Late Infantile Metachromatic Leukodystrophy-Arylsulfatase A Assay in 24h Urine. |
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Hong Jin Lee1, Yong Joon Shin1, Yong Seung Hwang1, Hyung Ro Moon1, Jeong Seon Seo2 |
1Departments of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
2Department of Biochemistry, College of Medicine, Seoul National University, Seoul, Korea |
| 지발성 영아기형 Metachromatic Leukodystrophy
소변내의 Arylsulfatase A 분석 |
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이홍진1, 신용준1, 황용승1, 문형로1, 서정선2 |
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 생화학교실 |
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Received: 16 August 1988 • Accepted: 6 December 1988 |
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| Abstract |
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A 2 year 5 month old female infant with late infantile metachromatic leukodystrophy was
diagnosed by typical clinical and laboratory findings and Arylsulfatase A assay in 24h urine. The
patient’s mother was confirmed as a heterozygote by Arylsulfatase A activities in 24h urine which
was about one half of normal control groups. |
| Key Words:
Metachromatic leukodystrophy, Arylsulfatase A |
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