Insight into "Consensus recommendations for diagnosis and treatment of glycogen storage disease typeⅡ"
<p>Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by deficiency of acid α-glucosidase (GAA). The gene is located in 17q25.3. Diagnosis has been classically made by means of muscular biopsy. Nowadays it is more convenient to screen GAA in dried blood s...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Tianjin Huanhu Hospital
2014-05-01
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| coleção: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Assuntos: | |
| Acesso em linha: | http://www.cjcnn.org/index.php/cjcnn/article/view/947 |
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