Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health discusses the differential diagnosis of Mucopolysaccharidosis type I (MPS I), a condition that affects many parts of the body. MPS I is a condition that affects many parts of the body.
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
The Global Commission to End the Diagnostic Odyssey for Children, co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, is a multidisciplinary group of patient advocates, physicians and other experts working together to help solve the complex challenges impacting the rare disease community.
Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).
Ido Weinberg, MD, Medical Director, VASCORE; Assistant Professor of Medicine at Harvard Medical School, Co-Medical Director, Anticoagulation Management Services, Massachusetts General Hospital, discusses diagnostic challenges of treatment limitations of Fibromuscular Dysplasia (FMD).
Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).