Orbital imaging plays a pivotal role in the diagnosis and management of orbital and periorbital diseases. Over the past ...

Spur Therapeutics Publishes Preclinical Proof-of-Concept Data for FLT201, its Clinical-Stage Gene Therapy Candidate in Gaucher Disease ...

Gaucher disease, one of the most common lysosomal storage disorders, is a rare inherited genetic metabolic disease caused by autosomal recessive mutations in the GBA gene located on chromosome ...

Understanding Gaucher Disease Summary Gaucher disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the buildup of fatty substances in organs and bones ...

Gaucher disease: Types and symptoms Type 1 (non-neuronopathic): This is the most common form and accounts for approximately 90% of all cases. It primarily affects the spleen, liver, and bone ...

This case illustrates a previously undescribed presentation of Gaucher disease and a new likely pathogenic genetic variant for Gaucher disease. It highlights the role of a multidisciplinary approach, ...

'My Gaucher Disease Symptoms Were Dismissed As IBS Or Swallowing Air—Here's What Doctors Missed' A health coach tells the story of her surprising diagnosis.

Explore the significant advancements in early diagnosis and treatment of Gaucher disease, a common lysosomal storage disorder, and learn how Sanofi South Africa is working towards improving ...

Spur is advancing a breakthrough gene therapy candidate for Gaucher disease and a potential first-in-class gene therapy candidate for adrenomyeloneuropathy, as well as a research strategy to move gene ...

People with the rare inherited metabolic disorder Gaucher disease have a deficiency in the lipid-digesting glucocerebrosidase enzyme, which causes the accumulation of harmful levels of glucolipids in ...