Sökning: "Gaucher disease"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden Gaucher disease.

  1. 1. Parkinson's disease and Gaucher disease : focus on the GBA1 link

    Författare :Lovisa Brodin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Parkinson’s disease (PD) is the 2nd most common neurodegenerative disorder in the world, characterized by both motor as well as many non-motor features. There are many symptomatic treatments available, that may shift significantly during the course of the disease. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

  4. 3. Development of Mouse Models and Gene Therapy for Gaucher Disease

    Författare :Ida Berglin-Enquist; Avdelningen för molekylärmedicin och genterapi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Gaucher disease (GD) patients cannot metabolize glycosphingolipids properly due to deficiency of the enzyme glucosylceramidase (GCase). The lack of animal model for GD has hindered comprehensive investigation of disease mechanisms and also the development of curative treatment strategies such as hematopoietic stem cell (HSC) targeted gene therapy. LÄS MER

  5. 4. Studies on eye movements in Parkinson's disease

    Författare :Panagiota Tsitsi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Heterogeneity in Parkinson’s Disease (PD) phenotype and genotype is probably the main reason why, despite the abundance of biomarkers, we still lack a robust method for diagnosis and prognosis, besides clinical evaluation. Subjective changes in vision and objective measures in eye movements have been extensively studied, but the results are mainly used to better understand the pathophysiology of PD and are not integrated into the clinical praxis. LÄS MER

  7. 5. Ultrastructural Studies of the Airway Epithelium in Airway Diseases

    Författare :Eyman Shebani; Godfried M. Roomans; Marie Johannesson; Anil Mehta; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Morphology; asthma; cilia; corticosteroids; cytokines; desmosomes; Gaucher’s disease; montelukast; primary ciliary dyskinesia; transmission electron microscopy; Morfologi; Morphology; cell biology; pathology; Morfologi; cellbiologi; patologi;

    Sammanfattning : Ultrastructural studies of airway epithelium in airway disease are important for diagnosis and understanding the underlying pathology which helps clinicians to improve the patients' treatment.Airway biopsies from a 5-month old boy with respiratory problems and gastro-oesophageal reflux were studied by transmission electron microscopy (TEM). LÄS MER