Sökning: "Ole B Suhr"
Hittade 4 avhandlingar innehållade orden Ole B Suhr.
1. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease
Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER
2. Gastrointestinal disturbances in hereditary transthyretin amyloidosis
Sammanfattning : BackgroundTransthyretin amyloid (ATTR) amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin (TTR) monomers. Two main forms exist – wild-type and hereditary ATTR amyloidosis, the latter associated with TTR gene mutations. LÄS MER
3. The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition
Sammanfattning : Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. LÄS MER
4. Autoimmune hepatitis in Sweden
Sammanfattning : Autoimmune hepatitis (AIH) was identified as an entity by the Swedish professor Jan Waldenström in the 1950s. It was then denoted lupoid hepatitis, characterized by liver inflammation and most often affecting young women. LÄS MER