Journal of mucopolysaccharidosis and rare diseases
- 제2권1호
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- Pages.31-31
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- 2016
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- 2465-8936(pISSN)
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- 2465-9452(eISSN)
DOI QR Code
Mucolipidosis Type II in Vietnam
- Vu, Chi Dung (Department of Medical Genetics, Metabolism and Endocrinology, Vietnam National Children's Hospital)
- 투고 : 2016.04.12
- 심사 : 2016.05.10
- 발행 : 2016.06.30
초록
Purpose: To describle clinical features and enzyme activity of Vietnamese patients with Mucolipidosis type II. Methods: Clinical features, laboratory and plasma lysosom enzyme activity by 4 MU-Fluorometric assay was studied from 2014-2015 at the Northern referral center of Pediatrics - National Children's Hospital. Results: 16 cases (7 girls and 9 boys) were diagnosed with I-cell bases on clinical symptoms and enzyme activities studies. Diagnosis age was