Search for dissertations about: "porphobilinogen"
Showing result 1 - 5 of 6 swedish dissertations containing the word porphobilinogen.
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1. Genetic investigation and regulation of the porphobilinogen deaminase gene
Abstract : .... READ MORE
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2. 5-Aminolevulinic acid and derivatives thereof : properties, lipid permeability and enzymatic reactions
Abstract : 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. READ MORE
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3. Acute intermittent porphyria : studies of chronic disease, recombinant enzyme therapy and late complications
Abstract : 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. READ MORE
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4. New approaches for treatment of acute intermittent porphyria by enzyme substitution and gene therapy : evaluation in vitro and in vivo
Abstract : 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. READ MORE
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5. Studies on the acute porphyrias : with special reference to women’s health
Abstract : 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. READ MORE