The hematology specialist officially diagnosed me with Gaucher disease. The bone marrow biopsy confirmed my diagnosis of ...

Gaucher's disease (GD) is a lysosomal storage disorder that has progressive course and is rarely seen. Research has shown that a pathological femoral neck fracture with GD mostly emerges in childhood.

England’s NHS will routinely fund Sanofi/Genzyme’s Cerdelga (eliglustat) for the rare condition Gaucher disease after a recommendation from NICE. The cost effectiveness body published final ...

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 ...

Additional details on the meeting can be found at the WORLD Symposium website. About Spur Therapeutics Spur Therapeutics is a clinical-stage biotechnology company focused on developing life-changing ...

HealthSpotlight: Your Trusted Source for Gacuher Disease Insights HealthSpotlight offers in-depth insights and expert analysis on the latest research, trends, and resources related to Gaucher Disease.

Sanofi is still running studies of the glycosphingolipid (GSL) inhibitor in rare lysosomal storage diseases like Gaucher disease type 3, Fabry disease and GM2 gangliosidosis (also known as Tay ...

Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed ...

Background: Gaucher disease is classified into neuronopathic and non-neuronopathic forms with wide phenotypic variation among patients sharing the same genotype. While homozygosity for the common ...