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  • Selektivni biokemični screening za genetske motnje presnove = Selective biochemical screening for genetic metabolic disorders
    Žerjav-Tanšek, Mojca ...
    Despite extensive new knowledge, there is considerable evidence that many inherited metabolic disorders remain undiagnosed or are misdiagnosed. One of the reasons is a low incidence of metabolic ... diseases and many physicians do not consider acute situations until more common conditions have been ruled out. Additionally, clinical circumstances can be present with fluctuating multisystemic manifestations. The article presents the clinical and biochemical indications and analysis for the quantitative determination of amino acids and organic acids. The method is available now in the University Children's Hospital in Ljubljana.
    Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 7, suppl. 1, 2000, str. 136-141)
    Type of material - article, component part
    Publish date - 2000
    Language - slovenian
    COBISS.SI-ID - 11342809

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