Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China
OBJECTIVE: Glycogen-storage disease type II (GSD II, Pompe's disease) is an autosomal recessive disorder caused by a functional deficiency of acid alpha-glucosidase (GAA) that leads to glycogen accumulation within lysosomes in most tissues. The GAA gene is located to human chromosome 17q25 and...
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 45(2007), 10 vom: 23. Okt., Seite 760-4 |
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| Weitere Verfasser: | , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2007
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | English Abstract Journal Article Glycogen 9005-79-2 Glucan 1,4-alpha-Glucosidase EC 3.2.1.3 |