Niemann-pick Disease Type C1
Last Posted: Oct 27, 2016
- Gene therapy shows promise for treating Niemann-Pick disease type C1
NIH, October 26, 2016
- High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif Christopher A, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 3
- Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
Fu Rao, et al. American journal of medical genetics. Part A 2012 11 (11) 2775-80
- Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity.
Xi Bo, et al. American journal of epidemiology 2011 6 (11) 1256-62
- Niemann-Pick disease type C1
From NCATS Genetic and Rare Diseases Information Center
- Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels.
Uronen Riikka-Liisa, et al. Arteriosclerosis, thrombosis, and vascular biology 2010 8 (8) 1614-20
- Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.
Hotta Kikuko, et al. Journal of human genetics 2009 12 (12) 727-31
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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