Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

Abstract Background In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh who were diagnosed in Romania from 2005 to 2018. Results Of 18 patient...

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Bibliographic Details
Main Authors: Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan, Daniel Coriu
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary amyloidosis
Transthyretin amyloidosis
Glu54Gln transthyretin variant
Romania
Cardiomyopathy
Online Access:https://doi.org/10.1186/s13023-020-1309-9

Internet

https://doi.org/10.1186/s13023-020-1309-9

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