טוען...
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...
שמור ב:
| הוצא לאור ב: | Ann Transl Med |
|---|---|
| Main Authors: | , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
AME Publishing Company
2017
|
| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641736/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s073 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|