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, cilt.61, sa.3, ss.449-452, 2019 (SCI-Expanded, Scopus, TRDizin)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 61 Sayı: 3
• Basım Tarihi: 2019
• Doi Numarası: 10.24953/turkjped.2019.03.022
• Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.449-452
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Hacettepe Üniversitesi Adresli: Evet

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.