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Perinatal-lethal Gaucher disease presenting as hydrops fetalis
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis a...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546719/ https://www.ncbi.nlm.nih.gov/pubmed/26327947 http://dx.doi.org/10.11604/pamj.2015.21.110.7052 |