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Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogeneity of the clinical manifestations. In this study, DNA extracted from archival postmortem formalin-fixed paraffin-embedded tissues was used to identify Pompe disease mutations in Oman and develop a rapid molecular-based test.

sultan qaboos university medical journal

The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test = تحديد الطفرات المسببة لمرض بومبي في عينات أنسجة محفوظة و تطوير الفحص الجزيئي