about
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthDiagnostic workup and management of patients with suspected Niemann-Pick type C diseaseNiemann-Pick disease treatment: a systematic review of clinical trialsDysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustatNiemann-Pick disease type C symptomatology: an expert-based clinical descriptionGenetic and laboratory diagnostic approach in Niemann Pick disease type CNiemann-pick disease type C: implications for sedation and anesthesia for diagnostic proceduresCollaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 diseaseGenetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CSecondary psychosis induced by metabolic disordersThe lysosome: from waste bag to potential therapeutic targetReducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C MiceGenomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorderMiglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC DiseaseCyclodextrins as Emerging Therapeutic Tools in the Treatment of Cholesterol-Associated Vascular and Neurodegenerative DiseasesRecent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatricianCCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationAssociation between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent StutteringChronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse modelLoss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathwayProtein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 diseaseAlteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stressNiemann-Pick C disease gene mutations and age-related neurodegenerative disordersDefective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseGpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C DiseasePathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathwayFostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrinProteins that bind and move lipids: MsbA and NPC1.Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkersA novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CIntracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.Miglustat: a review of its use in Niemann-Pick disease type C.Pluronic based β-cyclodextrin polyrotaxanes for treatment of Niemann-Pick Type C disease.Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
Niemann-Pick disease type C
@ast
Niemann-Pick disease type C
@en
Niemann-Pick disease type C
@en-gb
Niemann-Pick disease type C
@nl
type
label
Niemann-Pick disease type C
@ast
Niemann-Pick disease type C
@en
Niemann-Pick disease type C
@en-gb
Niemann-Pick disease type C
@nl
prefLabel
Niemann-Pick disease type C
@ast
Niemann-Pick disease type C
@en
Niemann-Pick disease type C
@en-gb
Niemann-Pick disease type C
@nl
P2860
P921
P3181
P356
P1476
Niemann-Pick disease type C
@en
P2093
Marie T Vanier
P2860
P2888
P3181
P356
10.1186/1750-1172-5-16
P407
P5008
P577
2010-06-03T00:00:00Z
P5875
P6179
1005623887