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

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

TURKISH JOURNAL OF PEDIATRICS, vol.61, no.3, pp.449-452, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 61 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.24953/turkjped.2019.03.022
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.449-452
  • Hacettepe University Affiliated: Yes

Abstract

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.