Sökning: "Acute intermittent porphyria"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden Acute intermittent porphyria.

1. 1. Epidemiological, clinical anf pathogenetic studies of acute intermittent porphyria

   Författare :Ingemar Bylesjö; Christer Andersson; Pertti Mustajoki; Umeå universitet; []
   Nyckelord :Medicine; Acute intermittent porphyria; epilepsy; melatonin; diabetes mellitus; white-matter lesions; symptoms; Medicin; Medicine; medicin;

   Sammanfattning : Porphyrias are inherited metabolic disorders characterised by an impairment of heme biosynthesis. Acute intermittent porphyria (AIP) is the most common of the acute porphyrias in Sweden. Acute attacks of AIP are characterised by neuro-psychiatric symptoms, including epileptic seizures. LÄS MER

3. 2. Acute intermittent porphyria, women and sex hormones. Screening for hepatocellular carcinoma in porphyria

   Författare :Eva Innala; Christer Andersson; Marie Bixo; Torbjörn Bäckström; Raili Kauppinen; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Obstetrics and gynaecology; Obstetrik och gynekologi; obstetrik och gynekologi; Obstetrics and Gynaecology;

   Sammanfattning : Background:   Porphyrias are inherited disorders with impaired heme biosynthesis. Acute intermittent porphyria (AIP) is the most common porphyria in Sweden. AIP attacks may be life-threatening. Female sex hormones are regarded as important precipitating factors. 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. Liver transplantation, cancer risk and comorbidity in acute porphyria

   Författare :Mattias Lissing; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The porphyrias are a group of rare, mostly genetic, metabolic diseases caused by alterations in the eight enzymatic steps of the heme biosynthesis pathway. This thesis focuses on three of these diseases, acute intermittent porphyria (AIP), hereditary coproporhyria (HCP) and variegate porphyria (VP), collectively labeled acute porphyrias (AP) based on similarities in clinical and biochemical presentation. LÄS MER

7. 5. 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