Article
Pulmonary involvement in siblings with Gaucher disease type III.
Vojnosanitetski pregled - 1 Dec 2011
Djordjević Maja, Minić Predrag, Sarajlija Adrijan, Djuricic Slavisa M, Djokić Dragomir, Marković Obren
Abstract excerpt
INTRODUCTION: Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary d...
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