Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

Clin Genet. 2014 Mar;85(3):300-1. doi: 10.1111/cge.12145. Epub 2013 Apr 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Brain / pathology
  • Ceruloplasmin / deficiency*
  • Ceruloplasmin / genetics*
  • DNA Mutational Analysis
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / etiology*
  • Exons
  • Humans
  • Iron Metabolism Disorders / complications*
  • Iron Metabolism Disorders / diagnosis
  • Iron Metabolism Disorders / genetics*
  • Iron Overload / diagnosis
  • Iron Overload / etiology*
  • Liver / metabolism
  • Liver / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Neurodegenerative Diseases / complications*
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics*

Substances

  • Ceruloplasmin

Supplementary concepts

  • Familial apoceruloplasmin deficiency