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Aceruloplasminaemia: a disorder of diabetes and neurodegeneration
Author(s) -
Calder Genevieve L.,
Lee Melissa H.,
Sachithanandan Nirupa,
Bell Sally,
Zeimer Howard,
MacIsaac Richard J.
Publication year - 2017
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/imj.13309
Subject(s) - medicine , neurodegeneration , diabetes mellitus , differential diagnosis , metabolic disorder , pediatrics , endocrinology , disease , pathology
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.