An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient

Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a deficiency of lysosomal glucocerebrosidase, which results in the accumulation of glycosphingolipid substrates, primarily glucosylceramide, in the phagocyte system. In GD Type 1, the liver, spleen, and bon...

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Detalles Bibliográficos
Autores principales: Barootes, Hailey C., Prasad, Chitra, Rupar, C. Anthony, Ashok, Dhandapani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Resident Rounds
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679167/
https://www.ncbi.nlm.nih.gov/pubmed/34789027
http://dx.doi.org/10.1177/00099228211059668

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679167/
https://www.ncbi.nlm.nih.gov/pubmed/34789027
http://dx.doi.org/10.1177/00099228211059668

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