Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience
Makaleler > Tam Makale · 2020
Yazarlar: Melis Kose, Engin Kose, Mehtap Kagnici, Aycan Unalp, Sanem KESKİN YILMAZ, Murat Muhtar Yilmaz, Timur Mese, Selvinaz Edizer, Semra Gursoy, HÜSEYİN ONAY, Eser Sozmen Yildirim
MEDICAL JOURNAL OF BAKIRKOY, AHCI İndekslerine Giren Dergi, Uluslararası, 2020, cilt 16, ss 49-55
Özet
Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenic variants in the GAA gene that encodes lysosomal acid alpha-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainly presents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease.