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  • Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji
    Šmon Andraž; Grošelj Urh; Žerjav Tanšek Mojca ... Zdravstveno varstvo, 03/2015, Volume: 54, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH). Cilj te ...
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  • Newborn Screening in Sloven... Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji
    Šmon, Andraž; Grošelj, Urh; Žerjav Tanšek, Mojca ... Zdravstveno varstvo, 3/2015, Volume: 54, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Introduction. Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the programme in 1981. The aim of this study ...
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  • Association of Mitochondria... Association of Mitochondrial DNA Variants and Cognitive Impairment of Phenylketonuria Patients / POVEZANOST VARIJANTI U MITOHONDRIJALNOJ DNK I KOGNITIVNOG FENOTIPA KOD PACIJENATA SA FENILKETONURIJOM
    Klaassen, Kristel; Đordevič, Maja; Petrov, Maja Stojiljkovič ... Journal of medical biochemistry, 10/2013, Volume: 32, Issue: 4
    Journal Article
    Peer reviewed
    Open access

    Phenylketonuria (PKU) is a metabolic disorder caused by phenylalanine hydroxylase gene (PAH) mutations. If left untreated, PKU patients develop severe mental retardation potentially due to ...
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4.
  • Molecular Characteristics, ... Molecular Characteristics, Phenotypic Diversity and Genotype-Estimated Therapeutic Responsiveness of Serbian Patients with Phenylketonuria / MOLEKULARNE KARAKTERISTIKE, FENOTIPSKA RAZNOLIKOST I PROCENA ODGOVORA NA TERAPIJU ZASNOVANA NA GENOTIPU KOD SRPSKIH PACIJENATA SA FENILKETONURIJOM
    Stojiljković-Petrović, Maja; Klaassen, Kristel; Pavlović, Sonja Journal of medical biochemistry, 01/2014, Volume: 33, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Phenylketonuria (PKU) is a rare, inherited metabolic disease which is transmitted in an autosomal recessive pattern. PKU is caused by mutations in the gene encoding the phenylalanine hydroxylase ...
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  • Molecular Diagnosis of Phen... Molecular Diagnosis of Phenylketonuria: From Defective Protein to Disease-Causing Gene Mutation
    Pavlovic, Sonja; Stojiljkovic, Maja Journal of medical biochemistry, 10/2009, Volume: 28, Issue: 4
    Journal Article
    Peer reviewed
    Open access

    Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine ...
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6.
  • Ispitivanje uloge fenilalan... Ispitivanje uloge fenilalanin-amonij-lijaze iz endemske biljke Cyathobasis fruticulosa (Bunge) Aellen. u liječenju fenilketonurije
    Şirin, Seda; Aydaş, Selcen Babaoğlu; Aslım, Belma Food Technology and Biotechnology, 09/2016, Volume: 54, Issue: 3
    Paper
    Open access

    Nadomjesna terapija enzimom fenilalanin-amonij-lijaza novi je pristup u liječenju pacijenata s fenilketonurijom. Ovaj enzim sudjeluje u pretvorbi fenilalanina u trans-cimetnu kiselinu. Ispitana je ...
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