Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
PurposeGaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population.MethodsClinical findings at diagnosis, GBA mutations, and clinical courses w...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2012-02-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-55-48.pdf |