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

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

Abstract 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 microc...

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Bibliographic Details
Main Authors: Mária Ondrejkovičová, Sylvia Dražilová, Monika Drakulová, Juan López Siles, Renáta Zemjarová Mezenská, Petra Jungová, Martin Fabián, Boris Rychlý, Miroslav Žigrai
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Gastroenterology
Subjects:
Aceruloplasminemia
Ceruloplasmin
Wilson’s disease
Microcytic hypochrome anaemia
Case report
Online Access:http://link.springer.com/article/10.1186/s12876-020-01237-8

Internet

http://link.springer.com/article/10.1186/s12876-020-01237-8

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