- Two Cases of Late Infantile Metachromatic Leukodystrophy
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Roh MR, Lee KW, Lee DW, Lee SJ, Lee DW, Kang DY, Kwon TJ, Kim JS
- KMID: 1698840
- J Korean Pediatr Soc.
- 1984 Oct;27(10):1033-1039.
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- A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
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Lee JH, Min KB, Lee YM, Kang HC, Lee JS, Kim HD
- KMID: 2329492
- J Korean Child Neurol Soc.
- 2011 Dec;19(3):272-276.
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... -
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- A Case of Adult-onset Metachromatic Leukodystrophy with Normal Nerve Conduction Studies
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Moon JS, Lee JH, Kim MJ, Kim JK, Kim KS, Yoo BG
- KMID: 1572468
- J Korean Neurol Assoc.
- 2006 Jun;24(3):286-289.
Adult-onset metachromatic leukodystrophy (MLD) is very rare with a combination of cognitive and behavioral symptoms and peripheral polyneuropathy. A 47-year-old man was admitted due to memory impairment, gait disturbance, dysarthria... -
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- MR Imaging of Childhood Metachromatic Leukodystrophy
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Choi YS, Lee JY, Kim TS, Kim IO, Yeon KM, Kim OH, Hwang YS
- KMID: 2346161
- J Korean Radiol Soc.
- 1995 Sep;33(3):433-437.
PURPOSE: The purpose of this study was to analyze the characteristic MR findings of childhood metachromatic leukodystrophy. MATERIALS AND METHODS: Five female patients (10--29 months old;mean age, 21.8 months) of biochemically confirmed metachromatic... -
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- A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
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Kim YB, Park HD, Choi R, Lee SY, Ki CS, Song J, Kim JW, Lee J
- KMID: 2363006
- Lab Med Online.
- 2017 Jan;7(1):41-44.
- doi: 10.3343/lmo.2017.7.1.41
Metachromatic leukodystrophy is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A activity. The patient in this study, a 5-yr-old girl, presented with progressive psychomotor regression. An... -
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- A Case of Juvenile Metachromatic Leukodystrophy
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Park KS, Kim MH, Lee HB, Na DL, Park SH, Chi JG
- KMID: 1957318
- J Korean Neurol Assoc.
- 1994 Dec;12(4):800-803.
Metachromatic leukodystrophy(MLD) is a disorder of sulfatide metabolism due to deficiency of arylsulfatase A, with resulting accumulation of sulfatide in the brain, peripheral nerve and other tissuse. Recently we experienced... -
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- Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy
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Han M, Jun SH, Lee YJ, Eun BL, Lee SJ, Seong MW, Park SS, Song SH, Park HD, Song J
- KMID: 2045871
- Ann Lab Med.
- 2015 Jul;35(4):458-462.
- doi: 10.3343/alm.2015.35.4.458
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD... -
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- Clinical Manifestations of Leukodystrophies: A Single Center Study
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Kang SY, Yum MS, Choi HW, Lee EH, Ko TS, Yoo HW
- KMID: 1442111
- J Korean Child Neurol Soc.
- 2011 Aug;19(2):115-123.
PURPOSE: Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical... -
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- Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
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Kang DH, Lee DH, Hong YH, Lee ST, Jeon BR, Lee YK, Ki CS, Lee YW
- KMID: 1022044
- Korean J Lab Med.
- 2010 Oct;30(5):516-520.
- doi: 10.3343/kjlm.2010.30.5.516
Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA... -
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- Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Measurement of Leukocyte Arylsulfatase A Activity Using a Natural Substrate
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Han M, Jun SH, Song SH, Park HD, Park KU, Song J
- KMID: 2363170
- Ann Lab Med.
- 2015 Jan;35(1):165-168.
- doi: 10.3343/alm.2015.35.1.165
No abstract available. -
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