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

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 patients, 10 w...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Jercan, Andreea, Ene, Amalia, Jurcut, Ruxandra, Draghici, Mirela, Badelita, Sorina, Dragomir, Mihaela, Dobrea, Camelia, Popescu, Monica, Jardan, Dumitru, Stoica, Emanuel, Iacob, Speranta, Codita, Ionela, Stan, Claudiu, Coriu, Daniel
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6993313/
https://ncbi.nlm.nih.gov/pubmed/32000831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1309-9
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