Search Results - "Vrábelová, S"

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease by Vrabelova, Slavka, Letocha, Ondrej, Borsky, Marek, Kozak, Libor

“…Wilson disease (WD) is an autosomal recessive disorder of copper transport. WD patients are presenting with a wide range of heterogeneous clinical syndromes…”
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Molecular analysis of Wilson disease by Vrábelová, S, Vánová, P, Kopecková, L, Trunecka, P, Smolka, V, Procházková, D, Vejvalková, S, Suláková, A, Kupcová, V, Bzdúch, V, Kozák, L

“…Wilson disease is an autosomal recessive disorder, characterized by cooper accumulation and intoxication of the organism. Molecular basis of the disease…”
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The hepatic form of Wilson's disease in young patients by Smolka, V, Frysák, Z, Kozák, L, Mathonová, J, Jezdinská, V, Novák, Z, Hrcková, Y, Vrábelová, S

“…Wilson's disease (WD) is a hereditary disorder of the copper metabolism with very varied clinical and biochemical symptoms. Hepatic and neurological forms are…”
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Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population by Kozàk, L, Hrabincovà, E, Rudolfoà, J, Vràbelovà, S, Freiberger, T

“…Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the commonest inherited disorder of fatty acid oxidation. Most clinically ascertained cases are caused…”
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