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Summary Lysosomal storage disorders (LSDs) are a clinically heterogeneous group of more than 50 disorders which still represent a challenge in modern medicine. The efficacy of many current and proposed therapies relies heavily upon early detection and treatment prior to the onset of irreversible pathology. Although there are multiple paths and algorithms to a final diagnosis, the diagnostic strategy for LSDs still mostly relies on initial clinical suspicion followed by adequate specialist and laboratory management - a selective screening approach. Despite the fact that the technology of tandem mass spectrometry enables newborn screening, such screening is generally acceptable only for a population at high risk for a certain LSD. As diagnostic testing for these disorders may be difficult, communication between the clinician who has established clinical suspicion and laboratory personnel will help complete this process. Kratak sadržaj Poremećaji u skladištenju lizozoma u kliničkom smislu čine heterogenu grupu više od 50 poremećaja koji još pred stavljaju izazov za modernu medicinu. Efikasnost mnogih postojećih i predloženih terapija u velikoj meri zavisi od rane detekcije i primene terapije pre nego što dođe do razvoja neizle čive patologije. Iako postoje brojni putevi i algoritmi za konačnu dijagnozu, dijagnostička strategija za poremećaje u skladištenju lizozoma i dalje se uglavnom oslanja na početnu kliničku sumnju posle koje sledi adekvatan specijalistički tretman i laboratorijski radpristup selektivnog skrininga. Uprkos činjenici da tehnologija tandem masene spektrometrije omogućava skrining novorođenčadi, takav skrining je generalno prihvatljiv samo za populacije sa visokim rizikom za odre đeni poremećaj u skladištenju lizozoma. Kako dijagnostič ko testiranje za ove poremećaje može biti teško, komunikacija između kliničara koji je ustanovio kliničku sumnju i osoblja u laboratoriji doprineće uspešnom okončanju ovog procesa.

Integrative Algorithms in the Diagnostics of Lysosomal Storage Diseases / INTEGRATIVNI ALGORITMI U DIJAGNOSTICI POREMEĆAJA U SKLADIŠTENJU LIZOZOMA