Cardiac Amyloidosis: Current Insights from Patients and Cardiologists Journeying Together
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cardiac Failure"
DOI: 10.1016/j.cardfail.2019.07.258
Abstract: Introduction Cardiac amyloidosis (CA) can be difficult to diagnose, with a prolonged and often complex patient journey. The most common forms of CA include light-chain (AL) amyloidosis and transthyretin amyloidosis (hereditary or wild-type). The introduction… read more here.
Keywords: patients cardiologists; insights patients; amyloidosis current; cardiac amyloidosis ... See more keywords
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Sign Up to like & getrecommendations! Published in 2024 at "British Journal of Haematology"
DOI: 10.1111/bjh.19387
Abstract: Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently,… read more here.
Keywords: cytopenia kabuki; insights patients; kabuki syndrome; paediatrics insights ... See more keywords
Developing Pharmacogenomic Reports: Insights from Patients and Clinicians
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Translational Science"
DOI: 10.1111/cts.12534
Abstract: Increasingly, for a variety of indications, patients have their genomes sequenced and actionable results returned. A subset of returned results is pharmacogenomic (PGx) variants involved in the metabolism or action of medications. Although the impact… read more here.
Keywords: patients clinicians; pharmacogenomic reports; insights patients; developing pharmacogenomic ... See more keywords