New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease

BACKGROUND: Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be preceded by diabetes mellitus and microcytic ana...

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Detalles Bibliográficos
Autores principales: Ondrejkovičová, Mária, Dražilová, Sylvia, Drakulová, Monika, Siles, Juan López, Zemjarová Mezenská, Renáta, Jungová, Petra, Fabián, Martin, Rychlý, Boris, Žigrai, Miroslav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137234/
https://www.ncbi.nlm.nih.gov/pubmed/32264837
http://dx.doi.org/10.1186/s12876-020-01237-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137234/
https://www.ncbi.nlm.nih.gov/pubmed/32264837
http://dx.doi.org/10.1186/s12876-020-01237-8

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