- A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Measurement of Leukocyte Arylsulfatase A Activity Using a Natural Substrate
-
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. -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Adult-onset Metachromatic Leukodystrophy with Normal Nerve Conduction Studies
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of 22q13 Deletion Syndrome
-
Na SR, Im BC, You JH, Cho HM, You EJ, Kim SJ, Kim KS, Kim YW, Kim EY
- KMID: 2176848
- J Korean Child Neurol Soc.
- 2010 Nov;18(2):338-344.
The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to... -
- CITED
-
- Close
- SHARE
-
- Close
- A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Juvenile Metachromatic Leukodystrophy
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Biochemical Characteristics of a Korean Patient with Mucolipidosis III (Pseudo-Hurler Polydystrophy)
-
Song J, Lee DS, Cho HI, Kim JQ, Cho TJ
- KMID: 1130045
- J Korean Med Sci.
- 2003 Oct;18(5):722-726.
- doi: 10.3346/jkms.2003.18.5.722
We performed a biochemical study on the patient with mucolipidosis III (ML-III, pseudo-Hurler polydystrophy) in Korea. Confluent fibroblasts from the patient and from normal controls were cultured for 4, 12,... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
