Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study.

Timothy J Reynolds Karen L TyleeKathryn L BoothAnthony S Wierzbickinull null

Published in: International journal of clinical practice (2020)

Pathology databases hold routine information that can be used to identify patients with inherited errors of metabolism. Biochemical screening using reduced eGFR alone has a low yield for unidentified cases of Fabry Disease.

Keyphrases

small cell lung cancer
epidermal growth factor receptor
tyrosine kinase
replacement therapy
clinical practice
hypertrophic cardiomyopathy
patient safety
emergency department
left ventricular
health information
deep learning
electronic health record