Artiklar

Gaucher disease is a lysosomal storage disorder caused by a pathogenic variant in the gene responsible for producing the enzyme acid β-glucosidase. More than 300 alleles carrying pathogenic variants have already been identified.¹

Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.

Loss of sense of smell is a common symptom of chronic rhinosinusitis with nasal polyps (CRSwNP), but its impact is often underestimated. Learn how olfactory dysfunction affects patient’s quality of life and explore the underlying mechanisms driving smell loss in CRSwNP.