A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting

Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effec...

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Detalles Bibliográficos
Autores principales: Al Shehri, Ali, Al-Asmi, Abdullah, Al Salti, Abdullah Mohammed, Almadani, Abubaker, Hassan, Ali, Bamaga, Ahmed K., Cupler, Edward J., Al-Hashel, Jasem, Alabdali, Majed M., Alanazy, Mohammed H., Noori, Suzan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9535603/
https://www.ncbi.nlm.nih.gov/pubmed/35754286
http://dx.doi.org/10.3233/JND-220819

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