Sökning: "porphobilinogen deaminase"

Hittade 3 avhandlingar innehållade orden porphobilinogen deaminase.

1. 1. Genetic investigation and regulation of the porphobilinogen deaminase gene

   Författare :Gunnel Lundin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : .... LÄS MER

3. 2. Acute intermittent porphyria : studies of chronic disease, recombinant enzyme therapy and late complications

   Författare :Eliane Sardh; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Acute intermittent porphria; porphobilinogen; 5-aminolevulinic acid; porphobilinogen deaminase; enzyme therapy; acute porphyria attack; chronic active disease; late complications;

   Sammanfattning : This thesis comprise five studies on patients with acute intermittent porphyria (AIP) observed under different clinical conditions associated with the disorder. They have generally been monitored at the porphyria out-patient clinic in Stockholm South Hospital, and were biochemically monitored at Porphyria Centre Sweden. LÄS MER

4. 3. New approaches for treatment of acute intermittent porphyria by enzyme substitution and gene therapy : evaluation in vitro and in vivo

   Författare :Annika Johansson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Acute intermittent porphyria; adenovirus; 5-aminolevulinic acid; enzyme substitution; gene therapy; non-viral gene delivery; porphobilinogen; porphobilinogen deaminase; protoporphyrin;

   Sammanfattning : Acute intermittent porphyria (AIP) is a rare inborn metabolic error of heme synthesis in which the activity of the third enzyme, porphobilinogen deaminase (PBGD), is deficient. It is clinically characterized by acute, potentially life-threatening neurologic attacks that are precipitated by various drugs, reproductive hormones and other factors. LÄS MER