Search for dissertations about: "Inborn errors of metabolism"

Showing result 1 - 5 of 11 swedish dissertations containing the words Inborn errors of metabolism.

  2. 1. Inborn errors in the metabolism of glutathione

    Author : Ellinor Ristoff; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Glutathione; glutathione synthetase; 5-oxoprolinuria; gamma-glutamylcysteine; gamma-glutamylcysteine synthetase; gamma-glutamyl cycle; ROS;

    Abstract : Glutathione (GSH) is a tripeptide present in all mammalian cells. It takes part in several fundamental biological functions, including handling of reactive oxygen species (ROS), detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA and leukotrienes, as well as neurotransmission/neuromodulation. READ MORE

  4. 2. Mitochondrial dysfunction and metabolic intervention

    Author : Johannes Ehinger; Mitokondriell Medicin; []
    Keywords : Mitochondrial Diseases; Huntington Disease; Amyotrophic lateral sclerosis; Succinate; Neurodegenerative disease; Inborn errors of metabolism; Mitochondria; Animal models;

    Abstract : .... READ MORE

  5. 3. Molecular aspects of glutathione synthetase deficiency

    Author : Runa Vidar Njålsson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Glutathione synthetase; kinetics; cooperativity; substrate affinity; splice mutations; phenotype; genotype;

    Abstract : The tripeptide glutathione (GSH) is involved in several crucial pathways in the cell, for instance regulation of enzyme activity, DNA synthesis, and free radical scavenging. Synthesis of GSH takes place via two steps in the gamma-glutamyl cycle. READ MORE

  6. 4. Allogeneic stem cell transplantation in children : identification and prevention of complications : adoptive transfer of EBV-immunity

    Author : Åsa Gustafsson Jernberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Children; CTL; EBV; Graft-versus-leukaemia; Stemcell transplantation; unrelated;

    Abstract : Allogeneic stem cell transplantation (SCT) can cure leukaemia, aplastic anaemia, and some inborn errors of metabolism and immunodeficiencies in children. As only 113 of patients who need SCT have an HLA-identical sibling, the use of alternative donors has increased, to over 50% of all paediatric SCTs at our centre. READ MORE

  7. 5. Metabolic disorders : genes and mechanisms

    Author : Camilla Maffezzini; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Mitochondrial disorders constitute a subgroup of the large family of rare monogenic diseases called Inborn Errors of Metabolism (IEM), but defects in mitochondrial activity have also been reported in more common and complex pathologies. In the present thesis, I validate new disease-causing variants and study the underlying molecular defects in three different cases of IEM. READ MORE