Article
Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study.
International journal of clinical practice - 1 Sept 2021
Reynolds Timothy M, Wierzbicki Anthony S, Skrahina Volha, Beetz Christian
Abstract excerpt
AIMS: Lysosomal β-glucocerebrosidase A (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 to...
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