Mayo Clinic doctors with expertise in Niemann-Pick work together to provide exactly the care you need.
- Advanced diagnosis. Mayo Clinic doctors are well-acquainted with this complicated disease and are experienced at distinguishing Niemann-Pick from other diseases with similar symptoms. Mayo Clinic has one of the few labs with the ability to run the advanced biochemical and genetic tests required to diagnose Niemann-Pick disease.
- Expertise and team approach. Mayo Clinic doctors have years of experience in caring for people who have Niemann-Pick disease. Specialists from neurology, pulmonary and critical care medicine, gastroenterology and hepatology, ophthalmology, and other areas work as a team to accurately diagnose the disease and treat the challenging symptoms.
- Research. Mayo Clinic researchers work to improve the lives of people with Niemann-Pick disease by developing potential new therapies.
Feb. 16, 2017
- Patterson MC. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 31, 2016.
- Patterson MC, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study. Orphanet Journal of Rare Diseases. 2015;10:65. http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0284-z. Accessed Oct. 31, 2016.
- Niemann-Pick disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inheriteddisordersofmetabolism/Niemannpickdisease. Accessed Oct. 31, 2016.