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master's thesis
INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES
graduation thesis
2023. urn:nbn:hr:184:260603
Lohmann, Franziska Sabine
University of Rijeka
Faculty of Medicine

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Lohmann, F. S. (2023). INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann, Franziska Sabine. "INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis." Master's thesis, University of Rijeka, Faculty of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann, Franziska Sabine. "INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis." Master's thesis, University of Rijeka, Faculty of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann, F. S. (2023). 'INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 23 January 2025, https://urn.nsk.hr/urn:nbn:hr:184:260603

Lohmann FS. INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2023 [cited 2025 January 23] Available at: https://urn.nsk.hr/urn:nbn:hr:184:260603

F. S. Lohmann, "INHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:184:260603

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Metadata
TitleINHERITED METABOLIC DISEASES CAUSED BY ENZYME DEFICIENCIES : graduation thesis
AuthorFranziska Sabine Lohmann
MentorLara Batičić (mentor)
Committee memberDijana Detel (predsjednik povjerenstva)
Committee memberMarin Tota (član povjerenstva)
Committee memberVlatka Sotošek Tokmadžić (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
Rijeka
Defense date and country2023, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Clinical Biochemistry
Abstract
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.
Keywords
Keywords (english)
Languageenglish
URN:NBNurn:nbn:hr:184:260603
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 on2023-07-04 07:31:23