Gaucher's disease is a rare hereditary illness that impairs the body's ability to break down a type of fat molecule known as glucocerebroside. This disorder is caused by mutations in the GBA gene ...

Gaucher's disease is caused by a deficiency of glucocerebrosidase (GCR) and was the first disease in which enzyme-replacement therapy became available to patients. Genzyme originally launched ...

The Lysosomal Storage Disorders Support Society of India (LSDSS), a support group advocating for rare-disease patients, has ...

Beutler E, Grabowski G, Gaucher disease.In: Scriver CR, Beaudet AL, Sly WS, Valle D,editors. The metabolic and molecular bases of inherited disease, 8th ed, Chapter ...

These treat conditions like hypertrophic cardiomyopathy, and intractable epilepsy. China’s National Healthcare Security ...

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 ...

Gaucher's disease, Wilson's disease, pheochromocytoma, afibrinogenemia and ruptured ectopic pregnancy. Conclusions Emergency physicians should be attuned to the fact that rupture of the spleen can ...

As part of this effort, the NHSA has adjusted the national medical insurance catalog for seven consecutive years since its establishment, expanding the scope of coverage to include rare diseases such ...

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 ...

SPR301 is a potential best-in-class gene therapy candidate that delivers a more stable, rationally engineered version of GCase, the enzyme ...

Patients with rare genetic disorders at AIIMS face life-threatening situations as government's funding runs dry. Despite court directives, funds remain unreleased. Families highlight urgent need for ...