Article
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Metabolic brain disease - 1 Oct 2020
Gharesouran Jalal, Jalaiei Abbas, Hosseinzadeh Aida, Ghafouri-Fard Soudeh, Mokhtari Zeinab, Ghahremanzadeh Kazem, Rezazadeh Narges, Shiva Shadi, Sadeghvand Shahram, Taheri Mohammad, Rezazadeh Maryam
Abstract excerpt
Pompe disease (PD) is a rare autosomal recessive multi-systemic lysosomal storage disorder, caused by mutations in the acid alpha-glucosidase (GAA) gene located on 17q25.2-q25.3. It is one of about 50 rare genetic diseases categorized as lysosomal storage disorders. This disease is characterized by a range of different symptoms related to acid alpha-glucosidase deficiency. Mutation recognition in the GAA gene can...
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