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...
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| Main Authors: | , , , |
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| Format: | Book |
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MDPI AG,
2023-05-01T00:00:00Z.
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