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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Detalles Bibliográficos
Autores principales: Bossù, Gianluca, Pedretti, Laura, Bertolini, Lorenzo, Esposito, Susanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216919/
https://www.ncbi.nlm.nih.gov/pubmed/37238417
http://dx.doi.org/10.3390/children10050869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216919/
https://www.ncbi.nlm.nih.gov/pubmed/37238417
http://dx.doi.org/10.3390/children10050869

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