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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 the Korean Child Neurology Society (대한소아신경학회지), Vol.19(3) : 272-276, 2011 
Journal Title
 Journal of the Korean Child Neurology Society  (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
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95133
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
Yonsei Authors
강훈철(Kang, Hoon Chul) ; 김흥동(Kim, Heung Dong) ; 이영목(Lee, Young Mock) ; 이준수(Lee, Joon Soo) ; 이지현(Lee, Ji Hyun)
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