Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
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The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patientsNiemann-Pick C2 (NPC2) and intracellular cholesterol trafficking.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 studyStructure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.Cardiac and skeletal muscles show molecularly distinct responses to cancer cachexia.Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome SequencingUtility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.Consensus clinical management guidelines for Niemann-Pick disease type C.Role of Niemann-Pick Type C Disease Mutations in Dementia.Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
P2860
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P2860
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
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2002年学术文章
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2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
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2002年學術文章
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name
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts.
@en
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts.
@nl
type
label
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts.
@en
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts.
@nl
prefLabel
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts.
@en
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts.
@nl
P2093
P2860
P1476
Niemann-Pick type C disease: m ...... mutant alleles in fibroblasts
@en
P2093
Bruno Bembi
Carla Battisti
Cristina Martini
Enza Di Leo
Francesca Panzani
Giorgia Ballarini
Patrizia Tarugi
Sebastiano Calandra
Silvia Palmeri
P2860
P304
P356
10.1194/JLR.M200203-JLR200
P577
2002-11-01T00:00:00Z