Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease


Berberoglu-Ates B., VARAN A. , DEMİR H. , AKYÜZ C. , YÜCE A.

TURKISH JOURNAL OF PEDIATRICS, cilt.61, ss.449-452, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 61 Konu: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.24953/turkjped.2019.03.022
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.449-452

Özet

Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid beta-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD include hepatosplenomegaly, cytopenia, and various patterns of bone and lung involvement.