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

Just five months old, Prajwal's life was turned upside down when his parents realised that his health was deteriorating. He ...

In a cohort of Canadians with type 1 Gaucher disease (GD), using bone marrow burden (BMB) scores demonstrated a limited association with patient disease characteristics, with no differences observed ...

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 ...

“It’s an honor to have Vice Adm. Gaucher here at the shipyard to see how Portsmouth is continuing to push boundaries to drive innovation and challenge delivery schedules while maintaining a ...

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 ...

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 ...