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Related to Niemann-Pick disease: Tay-Sachs disease, Gaucher disease
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Niemann-Pick disease (NPD) is an autosomal recessive metabolic disorder characterized by sphingomyelin accumulation in certain tissues.
Toni, who is now the national development manager of the Niemann-Pick Disease Group, spends every day helping families in similar positions.
United Kingdom: Niemann-Pick Disease Group UK (NPDG-UK) "Teenagers and Young Adults with Niemann-Pick Disease: Facing the Future Together" This project seeks to empower and improve the lives of teenagers and young adults with Niemann-Pick disease through education, information, and community.
About VTS-270 Vtesse's lead compound, VTS-270, has shown promise in pre-clinical and clinical studies as a potential treatment for Niemann-Pick Disease Type C (NPC).
The LSD Screening Panel tests for Krabbe disease, Gaucher's disease, Niemann-Pick disease (Type A and Type B), Pompe disease, Fabry disease and MPS I.
People lacking NPC1 due to genetic mutations develop a fatal neurodegenerative disorder called Niemann-Pick disease, in which cells become clogged with cholesterol and eventually die.
Money raised will go to Children's Hope Foundation, Just for Kids, the Niemann-Pick Disease Group, and the Chronicle's Sunshine Fund.
Diseases: Metabolic disease, lysosomal storage disorders, mucopolysaccharidoses, Hurler-Scheie disorder, Hunters syndrome, Morquios syndrome, Sanfi lippos syndrome, Slys syndrome, Maroteaux-Lamy syndrome, sphingolipidoses, metachromatic leukodystrophy, Tay-Sachs disease, Krabbes disease, Wolmans disease, cholesteryl ester storage disease, Gauchers disease, Fabrys disease, Niemann-Pick disease, glycogen storage disorders, Pompes disease, von Gierkes disease, Andersens disease, McArdles disease, Coris disease, Hers disease, Taruis disease, Fanconi-
We are pleased to have Neurotrope join the NORD Corporate Council, and we appreciate its commitment to bring innovative new therapies to market for the treatment of orphan indications with its initial focus targeting Fragile X Syndrome and Niemann-Pick Disease Type C," stated Peter L.
The concert has been organised by The Children's Hope Foundation which will be one of the beneficiaries along with Just for Kids, the Niemann-Pick Disease Group and the Chronicle's Sunshine Fund.
Human skin fibroblasts from two patients with Niemann-Pick disease and two with Krabbe disease, repository numbers GM00406, GM00370, GM04517, and GM04372, were obtained from the NIGMS Human Genetic Mutant Cell Repository (Camden, NJ).
Three-year-old Lucy Mathieson has the terminal Niemann-Pick disease type C, which affects just over 300 people worldwide.