Transplantační medicína

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 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 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

 La lysoGb3 es un marcador sensible para confirmar el diagnóstico de Fabry, diferenciar fenotipos y apoyar la interpretación de variantes genéticas inciertas, complementando pruebas enzimáticas y genéticas.