Niemann-pick Disease Type C1
What's New
Last Posted: Dec 29, 2023
- Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Huan Liang, et al. Journal of inherited metabolic disease 2023 0 - Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean Andreea, et al. Scientific reports 2020 0 (1) 18787 - 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
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Phenylketonuria
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- Page last reviewed:Feb 1, 2024
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