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

Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid β-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 involv...

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Príomhchruthaitheoirí: Burcu Berberoğlu-Ateş, Ali Varan, Hülya Demir, Canan Akyüz, Aysel Yüce
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: Hacettepe University Institute of Child Health 2019-06-01
Sraith:The Turkish Journal of Pediatrics
Ábhair:
Rochtain ar líne:https://turkjpediatr.org/article/view/718