Search for dissertations about: "genetic diseases"

Showing result 6 - 10 of 716 swedish dissertations containing the words genetic diseases.

  2. 6. Modelling and genetic correction of liver genetic diseases

    Author : Mihaela Zabulica; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The urea cycle is a set of biochemical reactions that converts highly toxic ammonia into urea for excretion. Deficiencies in any of the genes of the cycle can be life-threatening, with liver transplantation currently being the only definitive treatment. READ MORE

  4. 7. Genetic genealogy and epidemiology of Francisella

    Author : Kerstin Svensson; Anders Johansson; Mats Forsman; Sam R. Telford III; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Francisella tularensis; tularemia; genotyping; epidemiology; GIS; Infectious diseases; Infektionssjukdomar; Infectious Diseases; infektionssjukdomar;

    Abstract : This thesis is about analyzing genetic differences among isolates of Francisella tularensis – the tularemia-causing bacterium. To elucidate how these bacterial isolates are related, and their geographical and genetic origins, I have developed typing assays for Francisella and used them to study the epidemiology of tularemia. READ MORE

  5. 8. Mass Spectrometry of Non-protein Amino Acids : BMAA and Neurodegenerative Diseases

    Author : Liying Jiang; Leopold Ilag; Jonas Bergquist; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Neurodegenerative diseases; BMAA; Isomers; LC-MS MS; Cyanobacteria; Diatoms; Seafood contamination; Analytical Chemistry; analytisk kemi;

    Abstract : Neurodegenerative diseases have been shown to correlate positively with an ageing population. The most common neurodegenerative diseases are amyotrophic lateral sclerosis (ALS), Parkinson’s disease and Alzheimer’s disease. READ MORE

  6. 9. Genetic studies of schizophrenia

    Author : Eva Lindholm; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Schizophrenia; complex diseases; mitochondria; large pedigree; linkage analysis; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Abstract : The prevalence of schizophrenia is about 1% throughout the world. The disease is characterized by symptoms such as hallucinations, delusions and bizarre behavior. A genetic contribution to the disease was previously shown through epidemiological studies. The mitochondrial DNA was sequenced in four schizophrenic patients. READ MORE

  7. 10. Genetic studies of diabetes in northern Sweden

    Author : Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

    Abstract : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. READ MORE