A video of Hunter Syndrom
Dr Christina Lampe is the Vice Director and Founder of the Center for Rare Diseases at the Dr Horst Schmidt Clinic in Wiesbaden and the Center for Rare Diseases at the Department of Child Neurology, Epileptology and Social Pediatrics at the University of Giessen. In this episode of the MPS Webinar Series, Dr Lampe, who has spent over a decade focused on MPS diagnosis and treatment, shares her experience of working in such a rare specialism and examines some past case studies of MPS diseases.Read more
A video of CheckRare
Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.Read more
Mucopolysaccharidosis I (MPS I) is a rare inherited genetic disorder caused by a deficiency of an enzyme, α-L-iduronidase, leading to a buildup of a waste product called glycosaminoglycans (GAGs). Kali, a 23-year-old living with MPS I, will give you an inside look at MPS I Disease, her diagnostic journey and how she has handled some the daily struggles she has faced since she was diagnosed at age 11.