Transthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Behavior"
DOI: 10.1002/brb3.889
Abstract: Familial transthyretin amyloidosis is a life‐threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial… read more here.
Keywords: transthyretin familial; diagnosis; amyloid polyneuropathy; ttr fap ... See more keywords
P71-S Transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurophysiological assessment in asymptomatic carriers
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2019.04.599
Abstract: Background Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder caused by mutations in the TTR gene. Unless treated, its course is very severe and death occurs after 7–10 years of symptoms onset. Genetic counseling… read more here.
Keywords: transthyretin familial; amyloid polyneuropathy; ttr fap; familial amyloid ... See more keywords