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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2021
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| Materias: | |
| 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 |