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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Wilson disease genetic epidemiology consanguinity homozygosity index
2015/4/24
Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in ...
A young child case of Wilson disease with normoceruloplasminemia
Wilson disease normoceruloplasminemia
2009/4/1
A 5-year-old girl presented with chronic liver dysfunction. Her serum ceruloplasmin level was within normal range. Urinary copper excretion was slightly elevated. We performed ATP7B gene analysis. And...
Inherited metabolic disorders of copper transport —Clinical features and pathophysiology of Wilson disease, Menkes disease and aceruloplasminemia—
Inherited metabolic disorders copper transport —Clinical features Wilson disease Menkes disease
2009/4/1
Copper is an essential trace metal. Proteins exploit the unique redox nature of this metal to undertake a series of facile electron transfer reactions using copper as a cofactor in a select number of ...
Molecular diagnosis for presymptomatic patients with Wilson disease
Wilson disease ATP7B gene analysis presymptomatic diagnosis
2009/4/1
Wilson disease is a genetic disorder of copper metabolism characterized by hepatic and/or neurological manifestations. This disease is caused by mutations in the gene of copper transporting ATPase (AT...
Efficacy of D-penicillamine Challenge Test for Diagnosis of Wilson Disease
Wilson disease inborn error of copper metabolism D-penicillamine D-penicillamine challenge test
2009/3/16
Wilson disease is an autosomal recessive disorder of copper metabolism characterized by hepatic and/or neurological manifestations. This biochemical features of this disease are low serum ceruloplamin...
Wilson Disease Patients with Atypical Psychiatric Symptoms
Wilson disease inborn error of copper metabolism psychiatric symptoms hallucination autosmia
2009/3/16
Wilson disease is an autosomal recessive disorder of copper metabolism. The disease phenotype includes chronic liver disease (cirrhosis), neurological impairment (extra pyramidal signs), Kayser-Fleisc...