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A 52-year-old woman had a newly recognized disorder of familial hypoceruloplasminemia, blepharospasm, retinal degeneration, and high-density areas in CT of the basal ganglia and liver scan. Immunofixation electrophoresis disclosed apoceruloplasmin deficiency. Kinetic, x-ray analysis, and histochemical study showed accumulation of iron in liver and brain, but not of copper. Intestinal copper absorption was reduced, but liver uptake was increased. Ceruloplasmin is involved in iron metabolism, and the findings suggest that hypoceruloplasminemia due to lack of apoceruloplasmin was causally linked to the iron deposition in basal ganglia and other organs, leading to blepharospasm and retinal degeneration.
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
January 1966,
Archives of neurology,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
July 2001,
Archives of ophthalmology (Chicago, Ill. : 1960),
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
May 1975,
Science (New York, N.Y.),
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
January 1989,
Archives francaises de pediatrie,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
September 1968,
The Johns Hopkins medical journal,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
September 1998,
Journal of the American Veterinary Medical Association,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
December 1980,
American journal of ophthalmology,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
January 1969,
Acta neurologica Scandinavica,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
February 1979,
Bulletin de la Societe belge d'ophtalmologie,
H Miyajima, and
Y Nishimura, and
K Mizoguchi, and
M Sakamoto, and
T Shimizu, and
N Honda
January 1923,
Proceedings of the Royal Society of Medicine,
