Hereditary apolipoprotein A1 amyloidosis with cutaneous and cardiac involvement: a long familial history

Autor: Marco Paulli, Giampaolo Merlini, Luca Muscardin, Carlo Cota, Laura Obici, Laura Verga, Pietro Donati, Jo Linda Sinagra, Gian Luca Capello
Rok vydání: 2014
Předmět:
Zdroj: European journal of dermatology : EJD. 24(2)
ISSN: 1952-4013
Popis: Amyloidoses are a group of rare diseases characterized by the extracellular deposition of amyloid fibrils in tissues and organs [1]. The kidney, heart, liver and the peripheral nervous system are predominantly involved, whereas the skin is only rarely affected. More than 28 proteins have been identified to date as amyloidogenic, causing either systemic or a localized, sporadic or hereditary disease. Among the hereditary systemic amyloidoses, the number of mutated proteins known to be amyloidogenic [...]
Databáze: OpenAIRE