Bone, Skin & Immune
Genetic testing for inherited bone, skin or immune diseases provides rapid and comprehensive information to aid the diagnosis of these conditions. Early diagnosis opens up the possibilities for selecting optimal treatments and in addition prediction of disease progression.
Articles on Bone, Skin & Immune
LYSO-PROVE – Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. Gaucher disease is the most common sphingolipidosis and it is…