Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma

• Prif Awduron: Gianluca Bossù (Awdur), Laura Pedretti (Awdur), Lorenzo Bertolini (Awdur), Susanna Esposito (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2023-05-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Gaucher Disease (GD) is a condition resulting from an autosomal recessive inheritance pattern, characterized by a deficiency of the lysosomal enzyme beta-glucocerebrosidase. This leads to the accumulation of glucocerebroside and other glycolipids in multiple tissues, causing damage to various organ...