Article
Central nervous system involvement in a rare genetic iron overload disorder.
The Netherlands journal of medicine - 1 Oct 2010
Bethlehem C, van Harten B, Hoogendoorn M
Abstract excerpt
In most genetic iron overload disorders the diagnosis can be rejected when transferrin saturation is low. We describe a patient and her family with hyperferritinaemia and low transferrin saturation with iron accumulation in the central nervous system (CNS) and liver due to hereditary aceruloplasminaemia. In this rare genetic iron overload disorder oxidation of iron is disturbed, resulting in storage of iron in...
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