Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience


Kose M., Kose E., Kagnici M., Unalp A., Yilmaz U., Yilmaz M. M. , ...Daha Fazla

MEDICAL JOURNAL OF BAKIRKOY, cilt.16, ss.49-55, 2020 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 16
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5222/bmj.2020.91855
  • Dergi Adı: MEDICAL JOURNAL OF BAKIRKOY
  • Sayfa Sayıları: 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.