Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

PURPOSE OF REVIEW: These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers...

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Vydáno v:Curr Opin Neurol
Hlavní autoři: Obici, Laura, Kuks, Jan B., Buades, Juan, Adams, David, Suhr, Ole B., Coelho, Teresa, Kyriakides, Theodore
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2016
Témata:
Supplement Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4739313/
https://ncbi.nlm.nih.gov/pubmed/26734953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WCO.0000000000000290
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