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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...

Celý popis

Uloženo v:
Hlavní autoři: Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2022-10-01
Edice:Orphanet Journal of Rare Diseases
Témata:
Cross-reactive immunologic material status
Enzyme replacement therapy
Gulf countries
Infantile-onset Pompe disease
Immunomodulation protocol
On-line přístup:https://doi.org/10.1186/s13023-022-02545-w
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