Gaucher

Gaucher disease in children

Diagnostic and confirmation testing

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.

Diagnostic Algorithm

Understanding Gaucher Disease: Genetics, Transmission, and Family Screening

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

Wat als een voorgeschiedenis van botbreuken en pijn wijst op een zeldzame ziekte?

Klinische casus: Een 18-jarige met heuppijn en mank lopen