Sökning: "amyloidosis"
Visar resultat 16 - 20 av 74 avhandlingar innehållade ordet amyloidosis.
16. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy
Sammanfattning : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. LÄS MER
17. Familial amyloidosis with polyneuropathy : a clinical study based on patients living in northern Sweden
Sammanfattning : .... LÄS MER
18. Localized and systemic AL-amyloidosis : Aspects on protein structure, fibril formation and analytical methods
Sammanfattning : AL-amyloidosis is a protein storage disease and one of the most common types of amyloidosis. The precursor protein is a monoclonal immunoglobulin light chain which originates from plasma cell dyscrasia in systemic AL-amyloidosis and is probably produced by a local plasma cell clone in localized AL-amyloidosis. LÄS MER
19. Endogenous proteins as markers of glomerular function and dysfunction
Sammanfattning : Plasma and urine concentrations of endogenous proteins are frequently used in the diagnosis of kidney diseases and in studies of glomerular filter function. The main issues addressed in these studies were: storage of urine samples for subsequent protein analysis, use of protein concentrations in urine and in plasma in health and as markers of glomerular diseases, and the application of renal plasma-to-urine clearance of endogenous proteins in estimating the size-selectivity properties of the glomerular capillary wall. LÄS MER
20. Uncovering a Novel Pathway for Autoinflammation : With a Little Help from a Wrinkled Friend
Sammanfattning : A major challenge in medical genetics is to identify the mutations underlying heritable diseases. Dogs are excellent genetic models in the search for causative mutations, as they constitute a large library of naturally occurring heritable diseases many of which are analogous to those suffered by man. LÄS MER