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diplomski rad
INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES
graduation thesis
2023. urn:nbn:hr:184:260603
Lohmann, Franziska Sabine
Sveučilište u Rijeci
Medicinski fakultet

Citirajte ovaj rad

Lohmann, F. S. (2023). INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis (Diplomski rad). Rijeka: Sveučilište u Rijeci, Medicinski fakultet. Preuzeto s https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann, Franziska Sabine. "INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis." Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, 2023. https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann, Franziska Sabine. "INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis." Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, 2023. https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann, F. S. (2023). 'INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis', Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, citirano: 15.11.2024., https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann FS. INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis [Diplomski rad]. Rijeka: Sveučilište u Rijeci, Medicinski fakultet; 2023 [pristupljeno 15.11.2024.] Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:260603

F. S. Lohmann, "INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis", Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, Rijeka, 2023. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:260603

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Podaci o radu
NaslovINHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis
AutorFranziska Sabine Lohmann
MentorLara Batičić (mentor)
Član povjerenstvaDijana Detel (predsjednik povjerenstva)
Član povjerenstvaMarin Tota (član povjerenstva)
Član povjerenstvaVlatka Sotošek Tokmadžić (član povjerenstva)
Ustanova koja je dodijelila
akademski / stručni stupanj		Sveučilište u Rijeci
Medicinski fakultet
Rijeka
Datum i država obrane2023, Hrvatska
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Klinička biokemija
Sažetak
Inherited metabolic diseases are rare and enzyme-dependent conditions, mostly passed on in an autosomal-recessive manner, and are based on genetic mutations. Each country has its own spectrum of diseases that can/must be tested before and/or after birth. Additionally to metabolic conditions, newborn screening programs might also include e.g., testing for other conditions like endocrine disorders, blood diseases, hearing loss, and/or cystic fibrosis. Out of the over 500 known diseases, 91 are currently treatable. The variety of possible diseases, their rarity, as well as the non-specific symptoms often pose a challenge for medical staff to make a diagnosis. Sensitization of the medical staff to the possible occurrence of such a disease is important. The geographical and ethical distribution can vary greatly. Therapy includes symptomatic treatment, changes in diet, as well as medical and/or interventional procedures. unfortunately, the diseases are mostly not curable, the therapy options are limited and therefore the overall quality of life is often reduced.
Ključne riječi
Ključne riječi (engleski)
Jezikengleski
URN:NBNurn:nbn:hr:184:260603
Studijski programNaziv: Medicina
Vrsta studija: sveučilišni
Stupanj studija: integrirani preddiplomski i diplomski
Akademski / stručni naziv: doktor/doktorica medicine (dr. med.)
Vrsta resursaTekst
Način izrade datotekeIzvorno digitalna
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2023-07-04 07:31:23