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Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical phenotype of the disease is varied. It is proposed that this variation may be a result of differentialExpand
Wilson’s disease—cause of mortality in 164 patients during 1992–2003 observation period
AbstractWe studied the cause of death in a consecutive series of 164 patients with Wilson’s disease (WD) diagnosed over an 11 year period. A total of 20 [12% (95% CI 10.3–16.0)] died during theExpand
Acetaldehyde adducts and autoantibodies against VLDL and LDL in alcoholics.
Alcohol consumption markedly increases the hepatic output of very low density lipoprotein (VLDL), whereas it decreases the resulting low density lipoprotein (LDL) levels and apolipoprotein B. AsExpand
Differences in Risk Factors for Dementia with Neurodegenerative Traits and for Vascular Dementia
In 229 patients with dementia and in 144 control subjects, polymorphisms of apolipoprotein E (ApoE), low-density-lipoprotein (LDL)-receptor-related protein, α2-macroglobulin, interleukin (IL) 1β,Expand
Very high frequency of the His1069Gln mutation in Polish Wilson disease patients
Sirs: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. It is the result of insufficient biliary copper excretion and is characterized by a gradual accumulation ofExpand
Plasma antioxidant activity and vascular dementia
Little is known about the role of antioxidant activity in the pathogenesis of stroke-associated neuronal damage and impairment following a stroke. Increased free radical formation together withExpand
Apolipoprotein E Genotype and Lipid and Lipoprotein Levels in Dementia
In 64 individuals with dementia (26 Alzheimer type, 34 of vascular origin and 4 other types of dementia) apolipoprotein E genotype was identified. Frequency of ε4 allele was 36.5% in AlzheimerExpand
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene
The prevalence of the familial defective apolipoprotein B-100 (FDB) Arg3500Gln mutation in 525 unrelated hypercholesterolaemic Polish subjects was evaluated. DNA samples were screened for FDBExpand
Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's Disease population
Wilson's disease is an autosomal recessive disorder. More than 60 mutations of the Wilson's disease gene have been described so far. We have analysed 148 Polish Wilson's disease patients from 95Expand
Effects of long-term treatment in Wilson's disease withd-penicillamine and zinc sulphate
The results of treatment withd-penicillamine (d-P) or zinc sulphate (Zn) in 67 newly diagnosed cases of Wilson's disease have been compared. All patients (7 with hepatic, 1 with psychiatric and 59Expand