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, sa.1, ss.49-55, 2020 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5222/bmj.2020.91855
  • Dergi Adı: MEDICAL JOURNAL OF BAKIRKOY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.49-55
  • Anahtar Kelimeler: Pompe disease, hypertrophic cardiomyopathy, hypotonicity, DISEASE TYPE-II, GENOTYPE-PHENOTYPE CORRELATION, ALGLUCOSIDASE ALPHA, SPANISH PATIENTS, MUTATIONS, FREQUENCY, SURVIVAL, THERAPY, GENE
  • Ankara Üniversitesi Adresli: Hayır

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.