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...

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Detalles Bibliográficos
Autores principales: Roberti, Maria do Rosário Ferraz, Borges Filho, Handel Meireles, Gonçalves, Cláudio Humberto, Lima, Flávio Leão
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Hematologia e Hemoterapia 2011
Materias:
Case Report
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

Internet

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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