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

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 progression of...

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Detalles Bibliográficos
Autores principales: Al-Hassnan, Zuhair, Hashmi, Nadia Al, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Teneiji, Amal Al
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615381/
https://www.ncbi.nlm.nih.gov/pubmed/36303251
http://dx.doi.org/10.1186/s13023-022-02545-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615381/
https://www.ncbi.nlm.nih.gov/pubmed/36303251
http://dx.doi.org/10.1186/s13023-022-02545-w

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