Familial apoceruloplasmin deficiency

05/08/2015 - "Humans with aceruloplasminemia causing RPE iron overload had increased RPE C3d deposition. "
01/01/2011 - "Treatment of aceruloplasminemia is mainly based on the control of iron overload."
09/01/2007 - "Hereditary aceruloplasminemia is an adult-onset autosomal recessive disease characterized by increased iron overload in the liver, pancreas, retina, and central nervous system. "
04/01/2006 - "Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia."
06/01/2005 - "To provide the first ophthalmic case report of a Caucasian patient with the rare autosomal recessive disease aceruloplasminemia, which results in iron overload in the retina, brain, and pancreas. "

01/01/2007 - "We suggest that retinal degenerations in Japanese patients with aceruloplasminemia have clinical variability. "
08/10/2004 - "[Retinal degeneration in patients with hereditary ceruloplasmin deficiency]."
01/01/1998 - "Retinal degeneration in hereditary ceruloplasmin deficiency."
01/01/2011 - "Aceruloplasminemia is characterized by the triad of retinal degeneration, diabetes mellitus, and adult-onset disorder of the extrapyramidal system. "
05/01/1987 - "Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration."

10/01/1987 - "Molecular studies of ceruloplasmin deficiency in Wilson's disease."
04/01/2014 - "Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score."
03/01/2005 - "The abnormal T2 hypointensities were more marked than those seen in any other condition, including degenerative disorders of the basal ganglia and Wilson disease, and they may be typical of aceruloplasminemia. "
11/01/2000 - "This rare association is one cause of the chronic acquired non-Wilsonian hepatocerebral degeneration syndromes and represents a separate entity from aceruloplasminemia. "
05/01/1992 - "This disorder is suggested as a new disease due to ceruloplasmin deficiency different from Wilson's disease."

11/01/2011 - "Mechanisms underlying the pathologic mechanisms found in aceruloplasminemia also may be important in age-related macular degeneration."
01/01/2007 - "We observed a Japanese patient with macular degeneration in aceruloplasminemia. "
01/01/2007 - "To characterize the clinical features of a Japanese patient with macular degeneration in aceruloplasminemia. "
01/01/2007 - "Macular degeneration in a Japanese patient with aceruloplasminemia."
07/01/2011 - "Iron-induced oxidative stress causes hereditary macular degeneration in patients with aceruloplasminemia. "

10/01/2001 - "In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system. "
01/01/2013 - "For example, retinal degenerations have been found in hereditary iron overload disorders, like aceruloplasminemia, Friedreich's ataxia, and pantothenate kinase-associated neurodegeneration. "
03/01/2012 - "The conditions considered are Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, and neuroferritinopathy. "
01/01/2001 - "Many of these disorders are characterized by iron overload and include relatively common diseases such as hereditary hemochromatosis, rare abnormalities of plasma protein synthesis (atransferrinemia and aceruloplasminemia), and the neuromuscular disease Friedreich ataxia. "
02/01/2004 - "The latter can have implications for the treatment of Parkinson's disease and other neurodegenerative diseases (Alzheimer's disease, Friedreich ataxia, aceruloplasminemia, Hallervorden Spatz syndrome) where abnormal iron accumulation in the brain is thought to be associated with the degenerative processes."