Sökning: "porphobilinogen"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet porphobilinogen.

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

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

    Sammanfattning : .... LÄS MER

  3. 2. 5-Aminolevulinic acid and derivatives thereof : properties, lipid permeability and enzymatic reactions

    Författare :Edvin Erdtman; Leif Eriksson; Tore Brinck; Örebro universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; 5-Aminolevulinic acid; tautomerization; PDT; DFT; MM; QM MM; Porphobilinogen synthase; Uroporphyrinogen III decarboxylase; membrane penetration; enzyme mechanism; Biophysical chemistry; Biofysikalisk kemi; Quantum chemistry; Kvantkemi; Theoretical chemistry; Teoretisk kemi; Fysikalisk kemi; Physical Chemistry; Biochemistry; Biokemi;

    Sammanfattning : 5-aminolevulinic acid (5-ALA) and derivatives thereof are widely usedprodrugs in treatment of pre-malignant skin diseases of the cancer treatmentmethod photodynamic therapy (PDT). The target molecule in 5-ALAPDTis protoporphyrin IX (PpIX), which is synthesized endogenously from5-ALA via the heme pathway in the cell. LÄS MER

  4. 3. 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

  5. 4. 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

  7. 5. Studies on the acute porphyrias : with special reference to women’s health

    Författare :Daphne Vassiliou; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The acute porphyrias are a group of rare inherited disorders of the metabolism of heme. Three acute porphyrias comprise most of the cases: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). All three are inherited in an autosomal dominant pattern and have a very low clinical penetrance. LÄS MER