Uloga laboratorijske dijagnostike u dijagnostičkoj obradi djece pri sumnji na rijetke neurometaboličke bolesti.

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    • Alternate Title:
      The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases.
    • Abstract:
      Neurometabolic diseases in children are an ever-increasing group of rare diseases. One of the major reasons for this is the availability of new technologies used in selective laboratory diagnostics and newborn screening for inherited metabolic disorders. Such availability also furnishes clinicians with the opportunity to select diagnostic approach. Rapid development of new therapeutic possibilities for an ever-rising number of neurometabolic disorders at the same time imposes the need for early diagnosis and appropriate monitoring of the course of therapy. It is possible to respond to these challenges by multidisciplinary approach to a diseased child, while support of the society is an important factor. [ABSTRACT FROM AUTHOR]
    • Abstract:
      Neurometaboličke bolesti u dječjoj dobi skupina su rijetkih bolesti koja se sve više širi. Tome uvelike pridonosi dostupnost novih tehnologija koje se primjenjuju u selektivnoj laboratorijskoj dijagnostici i novorođenačkom probiru nasljednih metaboličkih poremećaja. Zajedno s drugom dijagnostičkom obradom, takva dostupnost ujedno omogućuje kliničarima izbor dijagnostičkog pristupa. Brzi razvoj novih terapijskih mogućnosti za sve veći broj neurometaboličkih poremećaja ujedno nameće potrebu za što ranijim postavljanjem dijagnoze i odgovarajućim praćenjem tijeka liječenja. Na ove izazove moguće je odgovoriti višedisciplinskim pristupom bolesnom djetetu, a bitan je čimbenik i potpora čitavog društva. [ABSTRACT FROM AUTHOR]
    • Abstract:
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