Izazovi i mogućnosti selektivne laboratorijske dijagnostike neuronske ceroidne lipofuscinoze tipa 1 i 2 u Republici Hrvatskoj.

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    • Alternate Title:
      Challenges and possibilities of selective laboratory diagnostics of neuronal ceroid lipofuscinosis types 1 and 2 in Croatia.
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    • Abstract:
      Neuronal ceroid lipofuscinoses are one of the most common neurometabolic disorders in children. Enhanced diagnostic and therapeutic possibilities, primarily for ceroid lipofuscinosis type 2, presents a challenge for timely diagnosis, which is mostly offered in large diagnostic centres. Early diagnosis of this disease is of utmost importance to ensure optimum care for children and their families, but is challenging mainly due to the lack of awareness of the disease, along with its nonspecific initial symptoms. The aim of this article is to provide basic information on the availability of selective laboratory diagnostics for ceroid lipofuscinosis types 1 and 2 in Croatia and offer such diagnostics also to paediatric neurologists from neighbouring countries. [ABSTRACT FROM AUTHOR]
    • Abstract:
      Neuronske ceroidne lipofuscinoze su jedna od najučestalijih neurometaboličkih poremećaja u djece. Sve veće dijagnostičke i terapijske mogućnosti, prvenstveno za ceroidnu lipofuscinozu tipa 2, izazov su za pravodobno postavljanje dijagnoze koja je uglavnom povezana s većim dijagnostičkim centrima. Rana dijagnoza ove bolesti presudna je radi osiguranja optimalne skrbi za djecu i njihove obitelji, ali je izazovna prvenstveno zbog nedostatka svijesti o bolesti i nespecifi čnosti početnih simptoma. Cilj je ovog teksta pružiti osnovne informacije o dostupnosti selektivne laboratorijske dijagnostike za ceroidnu lipofuscinozu tipa 1 i tipa 2 u Republici Hrvatskoj te ove mogućnosti ponuditi i pedijatrijskim neurolozima okolnih zemalja. [ABSTRACT FROM AUTHOR]
    • Abstract:
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