Associated Papers
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL et al.
Scientific Reports, 2022
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Touma L et al.
Scientific Reports, 2021
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I et al.
Journal of Translational Medicine, 2017
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
27139891 (PubMed )
Supplement: FEB2-590-1651-s001.pdf
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Marques AR et al.
Plos One, 2016
26771826 (PubMed )
Supplement: pone.0147208.s002.xls › Sheet1
Select a paper to view details