Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study.

Tim M ReynoldsKaren TyleeKathryn BoothAnthony S Wierzbickinull nullnull null

Published in: Journal of clinical pathology (2019)

Screening pathology databases for elevated CK may identify patients with inherited metabolic errors affecting muscle metabolism. However, the frequency of Pompé's disease identified from laboratory populations was less than that in patients referred for neurological investigation.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
protein kinase
emergency department
patient safety
adverse drug
patient reported
subarachnoid hemorrhage
genetic diversity
drug induced