Aceruloplasminemia

Clinical Neurology

Volumn 40, Issue 12, 2000, Pages 1290-1292

  Miyajima, H ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Ceruloplasmin; Copper; Ferroxidase; Iron

Indexed keywords

CERULOPLASMIN; COPPER; GLYCOPROTEIN; IRON;

ACERULOPLASMINEMIA; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BLEPHAROSPASM; CONFERENCE PAPER; DEMENTIA; DIABETES MELLITUS; DISORDERS OF METAL METABOLISM; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; HEMOSIDEROSIS; IRON METABOLISM; NERVE DEGENERATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; RETINA DEGENERATION;

ADULT; AGED; BRAIN; CERULOPLASMIN; COPPER; DIABETES MELLITUS; HUMANS; IRON; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES; RETINAL DEGENERATION;

EID: 0034436148     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (10)

1. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
2. Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
3. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
4. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus
5. A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus
6. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
7. Hereditary ceruloplasmin deficiency with hemosiderosis
8. A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis
9. Aceruloplasminemia with a novel mutation is associated with parkinsonism
10. Estimation of the gene frequency of aceruloplasminemia in Japan