Search for dissertations about: "Rare diseases"
Showing result 1 - 5 of 208 swedish dissertations containing the words Rare diseases.
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1. Healthcare Priority Setting and Rare Diseases : What Matters When Reimbursing Orphan Drugs
Abstract : The rarity of a disease can give rise to challenges that differ from conventional diseases. For example, rarity hampers research and development of new drugs, and patients with severe, rare diseases have limited access to qualified treatments. When drugs are available, clinical evidence has higher uncertainty and the drugs can be very expensive. READ MORE
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2. Epidemiology of Enterococci with Acquired Resistance to Antibiotics in Sweden : Special emphasis on Ampicillin and Vancomycin
Abstract : The first hospital outbreak of vancomycin-resistant enterococci (VRE) and carriage rates of VRE and ampicillin-resistant enterococci (ARE) in Sweden were investigated. Clonal relationships and mutations in fluoroquinolone resistance determining regions among ARE collected nation-wide were studied. READ MORE
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3. Studies of genetic mosaicism in rare diseases
Abstract : Mosaicism in human genetics refers to an individual harboring two or more genetic compositions, all derived from the same fertilized egg. Common signs of genetic mosaicism are asymmetric growth, skin aberrations or vascular malformations. READ MORE
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4. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases
Abstract : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. READ MORE
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5. Genetic causes and molecular mechanisms underlying rare metabolic bone diseases
Abstract : The skeletal system provides support for the body, enables movement and protects inner organs. Moreover, it supplies blood cells and acts as a reservoir for minerals and fat. Several external factors, including nutrition and long-term illness, influence bone health but genetic factors also play an important role. READ MORE