Associated Papers
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Hosseini K et al.
Cell Biochemistry and Function, 2024
Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease.
Schultz ML et al.
Jci Insight, 2022
Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.
Chen F et al.
Frontiers in Genetics, 2022
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
Modin L et al.
Children (basel, Switzerland), 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
Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.
Erwood S et al.
Genome Research, 2019
[Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].
Ren SC et al.
Zhonghua Yi Xue Za Zhi, 2018
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