Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity
OBJECTIVE: Glycogen storage disease type II (GSD II, Pompe disease) is caused by the deficiency of acid alpha-glucosidase (GAA) that leads to lysosomal glycogen accumulation. Early diagnosis and treatment of GSD II are considered to be critical for maximum efficacy of the enzyme replacement therapy....
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 48(2010), 1 vom: 29. Jan., Seite 55-9 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2010
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Evaluation Study Journal Article Research Support, Non-U.S. Gov't Glucan 1,4-alpha-Glucosidase EC 3.2.1.3 |