Artiklar
Kronisk rinosinuit med näspolyper: Samspelet mellan typ 2-inflammation och förlust av luktsinne
Understanding Gaucher Disease: Symptoms, Classification, and Clinical Presentation
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