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. 2023 Jun 1;62(6):728-732.
doi: 10.3760/cma.j.cn112138-20230403-00178.

[Multiple disciplinary team for Pompe disease]

[Article in Chinese]
Affiliations

[Multiple disciplinary team for Pompe disease]

[Article in Chinese]
G L Liu et al. Zhonghua Nei Ke Za Zhi. .

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。.

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