Article

Screening for patients with Gaucher’s disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

2021-03-15

Abstract excerpt

<h4>Aims: </h4>: Lysosomal β-glucocerebrosidase (GBA) deficiency causes Gaucher disease (GD), a recessive disorder caused by bi-allelic mutations in GBA. The prevalence of GD is associated with ethnicity, but largely unknown and potentially underestimated in many countries. GD may manifest with organomegaly, bone involvement and neurological symptoms as well as abnormal laboratory biomarkers. This study attempted...

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Literature Corpus work: 508c044e-cbd9-5900-802c-7b5b1608ef21
DOI: 10.22541/au.161576770.06456387/v1

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