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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  ;  Young-Mock Lee  ;  Hoon Chul Kang  ;  Joon Soo Lee  ;  Heung Dong Kim 
Citation
 Journal of the Korean Child Neurology Society, Vol.19(3) : 272-276, 2011 
Journal Title
Journal of the Korean Child Neurology Society(대한소아신경학회지)
ISSN
 1226-6884 
Issue Date
2011
Keywords
Metachromatic leukodystrophy ; Arylsulfatase A ; ARSA gene ; MRI ; MR spectroscopy
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.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Lee, Ji Hyun(이지현)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95133
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