Progress in genetic diagnosis and management of glycogen storage disease typeⅡ
<p>Glycogen storage disease type Ⅱ (GSD Ⅱ) is a rare autosomal recessive hereditary metabolic disorder characterized by progressive atrophy and weakness of skeletal muscle. It can be confirmed by clinical history, acid α-glucosidase (GAA) testing and GAA mutations. Early targeting treatment...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Tianjin Huanhu Hospital
2014-05-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/949 |