Wolman disease with novel mutation of LIPA gene in a Chinese infant
OBJECTIVE: To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 50(2012), 8 vom: 16. Aug., Seite 601-5 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2012
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Case Reports English Abstract Journal Article Research Support, Non-U.S. Gov't LIPA protein, human EC 3.1.1.13 Sterol Esterase Lipase EC 3.1.1.3 |