- Late Infantile-Onset Globoid Cell Leukodystrophy: Treatment using Hematopoietic Stem Cell Transplantation
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Lee SH, Ko A, Lyu CJ, Lee JS, Lee JS
- KMID: 2435276
- J Korean Child Neurol Soc.
- 2018 Mar;26(1):57-61.
- doi: 10.26815/jkcns.2018.26.1.57
Globoid cell leukodystrophy is a rare autosomal recessive disorder of the brain white-matter caused by galactosylceramidase deficiency; the disorder is classified into four types based on the age of onset.... -
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- Sphingolipidoses
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Yoo HW
- KMID: 2168069
- Hanyang Med Rev.
- 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is... -
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- Late-onset Krabbe's Disease (Globoid Cell Leukodystrophy): A case report
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Yang HS, Lee SH, Kang EK, Park YO
- KMID: 2324270
- J Korean Acad Rehabil Med.
- 2005 Oct;29(5):531-536.
Krabbe's disease is a rare autosomal recessive disorder characterized by hemiplegia, paraplegia, ataxia, cortical blindness, and peripheral neuropathy. This disease is caused by deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase(GALC),... -
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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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- A Case of Krabbe Disease
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Jung SY, Moon HK
- KMID: 2007333
- J Korean Child Neurol Soc.
- 2001 Oct;9(2):411-415.
Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside bata-galactosidase. The patient had typical clinical... -
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- A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation
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Choi SH, Lee J, Lee S, Ki CS, Lee M
- KMID: 2329430
- J Korean Child Neurol Soc.
- 2009 Nov;17(2):209-214.
Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis... -
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- A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC)
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Nam KS, Rhu SH, Sung YH, Oh MS, Jeong HW, Lee BC, Lee KH, Min KS, Han SH, Ki CS, Kim JW
- KMID: 1585786
- J Korean Neurol Assoc.
- 2004 Apr;22(2):167-171.
Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before... -
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