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NNPDF's Brochure On ASMD (pdf) - National Niemann-Pick Disease ... - Nnpdf
Get NNPDF's Brochure On ASMD (pdf) - National Niemann-Pick Disease ... - Nnpdf
Experience a ?e National Niemann-Pick Disease Foundation PERSEVERE P ersist. Quest. Cure. PERSEVERE To persist in an undertaking in spite of counter-influences, oppositions or discouragements. We,.
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Npa FAQ
Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
The Ara Parseghian Medical Research Foundation is a non-profit organization dedicated to funding medical research projects to find a treatment for Niemann-Pick Type C (NP-C) 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.
Niemann-Pick disease type C is an inherited lysosomal-storage disorder. Niemann-Pick disease type C is caused by harmful changes, or mutations, in two different genes, NPC1 and NPC2. Individuals with Niemann-Pick disease type C cannot properly break down cholesterol and fats.
Niemann-Pick disease type C is one of a group of rare inherited disorders. It is not related to frontotemporal dementia, which is also sometimes called Pick's disease. It mainly affects school-age children but can occur at any time, from early infancy to adulthood.
Some people die in childhood while others who appear to be less severely affected, live into adulthood. A child who shows signs of NPC before age 1 may not live to school age. Those who show symptoms after entering school may live into their mid-to-late teens, with a few surviving into the 20s.
Niemann–Pick type C disease is a complex lipid storage disorder where a variety of lipids, including cholesterol and glycosphingolipids, accumulate in the lysosomes of all cells.
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