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AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy
BACKGROUND: Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is...
में बचाया:
| में प्रकाशित: | Ann Transl Med |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
AME Publishing Company
2017
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641736/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s073 |
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