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Original Article

The Clinical Characteristics and Gene Analysis of Korean Gaucher Disease with Central Nervous System Involvement

Hoi Seok Choi, Sung Hwan Kim, Hiroyuki Ida, Hyun Ju Kim

Clin Exp Pediatr. 2000;43(5):611-618. Published online May 15, 2000

Purpose : We performed the study to determine the clinical characteristics and natural history of Gaucher disease with CNS involvement in Korea as well as to determine whether gene analysis would be helpful in the identification of neuronopathic Gaucher disease. Methods : We described the initial symptom, clinical manifestations, age of onset, clinical neurophysiologic findings and brain MRI findings from the...

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