Pompe disease: A case report
Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA). There are three ty...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Dicle University Medical School
2015-12-01
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| Series: | Dicle Medical Journal |
| Subjects: | |
| Online Access: | http://www.diclemedj.org/upload/sayi/58/Dicle%20Med%20J-02579.pdf |