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Related to Niemann-Pick disease: Tay-Sachs disease, Gaucher disease
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Conditions associated with hepatosplenomegaly like Gaucher disease, hexosaminidase A deficiency, Sandhoff disease, Niemann-Pick disease type C, Wolman disease, the mucopolysaccharidoses.
Niemann-Pick disease (NPD) is an autosomal recessive metabolic disorder characterized by sphingomyelin accumulation in certain tissues.
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.
The general objective of this project is to support accurate and timely diagnosis, treatment, and research for the overlapping but distinct rare genetic diseases, Niemann-Pick disease (NPD) type A, B & C in Europe.
Based on the availability of therapy and development of a screening method, 6 of the more than 40 known LSDs are candidates for newborn screening in the US: Gaucher disease, Pompe disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidosis I, and Krabbe disease.
The illness, Niemann-Pick disease, type C, will gradually rob her of the ability to talk and walk - and will shorten her life.
Linden Hall's Bigge Weekend has been organised by the Wearside-based charity the Children's Hope Foundation, which will be one of the beneficiaries of the event along with the Sunshine Fund, Just for Kids and the Niemann-Pick Disease Group, which does research into rare genetic conditions.
Similarly, patients with systemic conditions such as leukemia, Niemann-Pick disease, and bone infarcts also have a poor prognosis.
M2 EQUITYBITES-March 24, 2017-CTD Holdings reports launch of US Phase I clinical study of Trappsol Cyclo in Niemann-Pick Disease Type C patients
M2 PHARMA-March 24, 2017-CTD Holdings reports launch of US Phase I clinical study of Trappsol Cyclo in Niemann-Pick Disease Type C patients
The concert has been organised by Wearside-based charity The Children's Hope Foundation which will be one of the beneficiaries along with the Sunshine Fund, Just for Kids and the Niemann-Pick Disease Group, which does research into rare genetic conditions.
The two-day event has been organised by Wearside charity the Children's Hope Foundation, who will be one of the beneficiaries from all the tuneful action, alongside the Sunshine Fund, Just For Kids and the Niemann-Pick Disease Group, which does research into rare genetic conditions.