Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Abstract Background: Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-glucosidase enzyme deficiency is observed. Considering the rapid progr...

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发表在:	Orphanet Journal of Rare Diseases
Main Authors:	Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji
格式:	文件
语言:	英语
出版:	BMC 2022-10-01
主题:	Cross-reactive immunologic material status Enzyme replacement therapy Gulf countries Infantile-onset Pompe disease Immunomodulation protocol
在线阅读:	https://doi.org/10.1186/s13023-022-02545-w