Sökning: "5-oxoprolinuria"
Hittade 3 avhandlingar innehållade ordet 5-oxoprolinuria.
1. Inborn errors in the metabolism of glutathione
Sammanfattning : 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. LÄS MER
2. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis
Sammanfattning : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. LÄS MER
3. Molecular aspects of glutathione synthetase deficiency
Sammanfattning : 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. LÄS MER