Search for dissertations about: "Maria Dahl"

Showing result 1 - 5 of 7 swedish dissertations containing the words Maria Dahl.

  2. 1. Cell and gene therapy for blood disorders. Modeling of novel treatment strategies for Gaucher type 1 disease and Diamond-Blackfan anemia in mice

    Author : Maria Dahl; Avdelningen för molekylärmedicin och genterapi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gaucher disease; lentiviral vectors; gene therapy; Diamond-Blackfan anemia; hematopoietic stem cells; bone marrow transplant; Schlafen-2;

    Abstract : Gaucher disease type 1 (GD type 1) and Diamond-Blackfan anemia (DBA) are rare genetic disorders affecting the hematopoietic system and routinely treated by administration of drugs with variable clinical efficacy. Though effective in alleviating disease symptoms in large cohorts of patients, these treatment options have the major drawback of being non-curative. READ MORE

  4. 2. Aspects of the Grammar and Lexicon of Sεlεε

    Author : Yvonne Agbetsoamedo; Östen Dahl; Maria Koptjevskaja-Tamm; Felix Ameka; Stockholms universitet; []
    Keywords : HUMANIORA; HUMANITIES; Sεlεε; Santrokofi; GTM; grammatical description; noun class; negation; tense; aspect; diminutive; temperature evaluations; Linguistics; lingvistik;

    Abstract : This thesis is a description of some aspects of the grammar of Sɛlɛɛ, a Ghana-Togo-Mountain (GTM) language, based on my own fieldwork. The thesis consists of an introduction and five papers.Paper (I), Noun classes in Sεlεε, describes the noun class system of Sɛlɛɛ. READ MORE

  5. 3. Cardiometabolic health in students and young adults with mild/moderate intellectual disabilities : Results from a longitudinal follow-up study and a school intervention

    Author : Eva Flygare Wallén; Maria Mûllersdorf; Margareta Dahl; Mälardalens högskola; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Intellectual disabilities; cardiometabolic health; school intervention; food habits; physical activity;

    Abstract : BackgroundAdults with intellectual disabilities (ID) develop the metabolic syndrome and cardiovascular disease morefrequently than individuals without ID. The knowledge about cardiometabolic risk factors in adolescentswith mild/moderate ID is scarce. READ MORE

  6. 4. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Author : Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Abstract : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. READ MORE

  7. 5. Pharmacogenetics and Antipsychotic Treatment in Schizophrenia with Special Focus on Adverse Drug Reactions

    Author : Arzu Gunes; Marja-Liisa Dahl; Maria Gabriella Scordo; Kristina I. Melkersson; Jürgen Brockmöller; Uppsala universitet; []
    Keywords : Medicine; Pharmacogenetics; schizophrenia; antipsychotic treatment; adverse effects; clinical outcome; Medicin;

    Abstract : Genetically determined differences in drug metabolism and disposition and drug targets play a pivotal role in the interindividual variability in the clinical outcome of antipsychotic treatment. The aim of this thesis was to study the impact of polymorphisms in genes involved in the pharmacokinetics and pharmacodynamics of antipsychotics, with special focus on their extrapyramidal and metabolic adverse effects. READ MORE