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A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis

Other Titles
 유전자 검사로 확진 된 이염색 백색질 장애 환아 1례 
Authors
 Ji Hyun Lee ; Kyong Bok Min ; Heung Dong Kim ; Joon Soo Lee ; Hoon Chul Kang ; Young-Mock Lee 
Citation
 Journal of Korean Neurology Association (대한소아신경학회지), Vol.19(3) : 272~276, 2011 
Journal Title
 Journal of Korean Neurology Association (대한소아신경학회지) 
ISSN
 1226-6884 
Issue Date
2011
Abstract
Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/95133
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Pediatrics
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