{"title":"[Multiple disciplinary team for Pompe disease].","authors":"G L Liu, Z Y Wu","doi":"10.3760/cma.j.cn112138-20230403-00178","DOIUrl":null,"url":null,"abstract":"庞贝病是由于编码溶酶体内酸性α-葡糖苷酶（acid α-glucosidase，GAA）的基因缺陷所致的常染色体隐性遗传病。早期诊断和治疗干预可有效改善患者预后。由于庞贝病多系统受累，临床表现多样，故需要进行多学科综合管理贯穿患者的筛查诊断及治疗管理全程。现系统性总结庞贝病多学科综合管理的最新研究进展，为临床医师提供参考。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"728-732"},"PeriodicalIF":0.0000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua nei ke za zhi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112138-20230403-00178","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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