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...

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Detalles Bibliográficos
Autores principales: Chen, Chun-An, Tang, Nelson LS, Chien, Yin-Hsiu, Zhang, Wei-Min, Wang, Jou-Kou, Hwu, Wuh-Liang
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Case Report
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

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