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Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
Aceruloplasminemia is a rare autosomal recessive disease in which a mutation leads to the absence or dysfunction of ceruloplasmin. Deficiency of this enzyme leads to the accumulation of iron in various organs; aceruloplasminemia is usually characterized by diabetes, retinal degeneration and neurolog...
Autores principales: | Roberti, Maria do Rosário Ferraz, Borges Filho, Handel Meireles, Gonçalves, Cláudio Humberto, Lima, Flávio Leão |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Associação Brasileira de Hematologia e Hemoterapia
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415789/ https://www.ncbi.nlm.nih.gov/pubmed/23049345 http://dx.doi.org/10.5581/1516-8484.20110104 |
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