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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:
- T201105327.pdf Download
- Appears in Collections:
- 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
- Yonsei Authors
-
Kang, Hoon Chul(강훈철)
https://orcid.org/0000-0002-3659-8847
Kim, Heung Dong(김흥동) https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) https://orcid.org/0000-0001-9036-9343
Lee, Ji Hyun(이지현)
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