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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Manylion Llyfryddiaeth
Prif Awduron: Gianluca Bossù (Awdur), Laura Pedretti (Awdur), Lorenzo Bertolini (Awdur), Susanna Esposito (Awdur)
Fformat: Llyfr
Cyhoeddwyd: MDPI AG, 2023-05-01T00:00:00Z.
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3rd Floor Main Library

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Rhif Galw: A1234.567
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