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Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
BACKGROUND: Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifestations. CASE PRESENTATION: Hepatosplenomegaly, bone crisis and fractures occurre...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2005
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1164415/ https://www.ncbi.nlm.nih.gov/pubmed/15943874 http://dx.doi.org/10.1186/1471-2350-6-25 |