Article
Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report.
Endocrine, metabolic & immune disorders drug targets - 1 Jan 2023
Erdal İzzet, Yıldız Yılmaz, Önal Gizem, Aktepe Oktay Halit, Düzgün Selin Ardalı, Sağlam Arzu, Emre Serap Dökmeci, Sivri Hatice Serap
Abstract excerpt
BACKGROUND: Gaucher disease is a common lysosomal storage disease caused by the deficiency of the β-glucosidase enzyme, leading to sphingolipid accumulation in the reticuloendothelial system in Gaucher cells. Clinical findings are quite variable and some patients may remain asymptomatic lifelong. However, even when patients have mild symptoms, there is a significant increase in their quality of life with enzyme...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.