Search

Your search keyword '"Pérez Aguilar, Fernando"' showing total 1 results
Start Over Author "Pérez Aguilar, Fernando" Topic fibrinolytic agents
1 results on '"Pérez Aguilar, Fernando"'

1. Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis

Author

Pérez-Aguilar, Fernando, Burguera, Juan A., Benlloch, Salvador, Berenguer, Marina, and Rayón, Jose M.

Subjects
*PLASMIN, *GENETIC mutation, *FIBRINOLYTIC agents, *CERULOPLASMIN
Abstract

A 39-year-old asymptomatic man showed elevated serum ferritin levels, mild hypertransaminasemia and serum ceruloplasmin almost undetectable. There was histological iron accumulation within the hepatocytes and also in the central nervous system (MRI). A genetic analysis revealed a new missense mutation in the ceruloplasmin gene. Two of the other four siblings were also affected by this mutation. [Copyright &y& Elsevier]

Published
2005
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results