Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China
OBJECTIVE: Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The aim of this study was to explore the clinical manifestations, enzyme activities and SUMF1 gene mutation...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 51(2013), 11 vom: 31. Nov., Seite 836-41 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2013
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Journal Article Research Support, Non-U.S. Gov't Oxidoreductases Acting on Sulfur Group Donors EC 1.8.- SUMF1 protein, human EC 3.1.6.- Sulfatases |