A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

Abstract Background Paroxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals. This leads to frequent misdiagnosis and delays in diag...

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Autori principali:	Amanda Worker, Hadley Mahon, Jack Sams, Freya Boardman-Pretty, Elena Marchini, Rand Dubis, Alan Warren, Jez Stockdale, Jyothika Kumar, Elizabeth Varones, Daniel Ollerenshaw, Calum Grant, Peter Fish, Richard J. Kelly
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-10-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	Paroxysmal Nocturnal Haemoglobinuria (PNH) Machine learning Rare disease UK electronic health records Primary care
Accesso online:	https://doi.org/10.1186/s13023-024-03406-4
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