A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy
This case report describes a patient initially diagnosed with Gaucher disease (GD) with type I with homozygous mutation c.1448T > C p. (Leu483Pro) at age of 2, presenting with hepatosplenomegaly and cytopenia. Imiglucerase replacement therapy was initiated. At age 17, bilateral hearing loss develope...
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| Principais autores: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2024-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Assuntos: | |
| Acceso en liña: | http://www.sciencedirect.com/science/article/pii/S2214426924000284 |
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