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master's thesis
Lizosomske bolesti nakupljanja
2024. urn:nbn:hr:184:739026
Kujundžić, Mislav
University of Rijeka
Faculty of Medicine
Department of Biology and Medical Genetics

Cite this document

Kujundžić, M. (2024). Lizosomske bolesti nakupljanja (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:739026

Kujundžić, Mislav. "Lizosomske bolesti nakupljanja." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:739026

Kujundžić, Mislav. "Lizosomske bolesti nakupljanja." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:739026

Kujundžić, M. (2024). 'Lizosomske bolesti nakupljanja', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 12 December 2024, https://urn.nsk.hr/urn:nbn:hr:184:739026

Kujundžić M. Lizosomske bolesti nakupljanja [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2024 [cited 2024 December 12] Available at: https://urn.nsk.hr/urn:nbn:hr:184:739026

M. Kujundžić, "Lizosomske bolesti nakupljanja", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:184:739026

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Metadata
TitleLizosomske bolesti nakupljanja
Title (english)Lysosomal storage diseases
AuthorMislav Kujundžić
MentorNina Pereza (mentor)
Committee memberSanja Dević Pavlić (predsjednik povjerenstva)
Committee memberSaša Ostojić (član povjerenstva)
Committee memberSmiljana Ristić (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Rijeka
Defense date and country2024-07-12, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
Lizosomske bolesti nakupljanja heterogena su skupina rijetkih nasljednih bolesti. Iako se klinička obilježja pojedinih bolesti razlikuje, zajedničko im je da imaju progresivan tijek. Nastaju zbog nemogućnosti lizosoma da svojim enzimima, odnosno hidrolazama, potpuno razgrade proteine, ugljikohidrate, lipide i nukleinske kiseline, što dovodi do nakupljanja intermedijatnih makromolekula u lizosomima, koje ostaju nerazgrađene, te posljedično tomu dolazi do oštećenja stanica, odnosno tkiva. Liječenje je dostupno za neke bolesti, ali povećana smrtnost od ovih bolesti i dalje ostaje ista. Razvoj novih mogućnosti liječenja i uključivanje ovih bolesti u novorođenački probir dodatno će promijeniti svijest prirodi ovih poremećaja. Prema tome, sve navedeno ima za cilj približiti znanje i svjesnost o rijetkim i nasljednim bolestima, njihovim uzrocima i učestalosti, kliničkoj slici i dijagnostici, te mogućnostima trenutnog liječenja i onoga u razvijanju.
Abstract (english)
Lysosomal storage diseases are a heterogeneous group of rare inherited diseases. Although the clinical features of individual diseases differ, they all have in common a progressive course. They arise due to the inability of lysosomes to complete a breakdown of proteins, carbohydrates, lipids and nucleic acids with their enzymes, that are called hydrolases, which leads to the accumulation of intermediate macromolecules in lysosomes, which remain undegraded. As a result, cells and tissues become damaged. Treatment is available for some diseases, but the increased mortality from these diseases still remains the same. The development of new treatment options and the inclusion of these diseases in newborn screening will change further awareness of the nature of these disorders. Therefore, all of the above aims to bring knowledge and awareness of rare and hereditary diseases, their causes and frequency, clinical picture and diagnosis, and the possibilities of current and developing treatment.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:739026
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-06-27 08:55:34