Clinical and Experimental Pediatrics

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Jeong Seon Seo

1 Article

Original Article

Late Infantile Metachromatic Leukodystrophy-Arylsulfatase A Assay in 24h Urine.

Hong Jin Lee, Yong Joon Shin, Yong Seung Hwang, Hyung Ro Moon, Jeong Seon Seo

Clin Exp Pediatr. 1989;32(7):978-983. Published online July 31, 1989

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.

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