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Aceruloplasminaemia: a disorder of diabetes and neurodegeneration
Genevieve L Calder1, Melissa H Lee1, Nirupa Sachithanandan1
1Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
Abstract:
Aceruloplasminaemia is an autosomal recessive disorder of iron metabolism which is characterised by diabetes, neurodegeneration and anaemia. It should be considered in the differential diagnosis of adult onset, antibody-negative diabetes associated with persistent mild anaemia and hyperferritinaemia and/or progressive neuropsychiatric impairments.
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