- A Case of Canavan Disease
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Son YH, Hwang TG, Sinn JB
- KMID: 1607054
- J Korean Pediatr Soc.
- 2003 Sep;46(9):934-938.
Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an... -
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- A Case of Canavan Disease
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Yoon SY, Kim JH, Ko TS, Choi CK, Kong KY
- KMID: 2329220
- J Korean Child Neurol Soc.
- 1997 Oct;5(1):159-166.
Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also... -
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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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