Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma
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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-05-01
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Series: | Children |
Subjects: | |
Online Access: | https://www.mdpi.com/2227-9067/10/5/869 |