Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
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Diagnostic workup and management of patients with suspected Niemann-Pick type C diseaseMiglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC DiseaseAdult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains DifficultNovel 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.Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Neurological Dysfunction in Early Maturity of a Model for Niemann-Pick C1 Carrier Status.Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.Niemann-Pick type C: focus on the adolescent/adult onset form.Crosstalk between sphingolipids and vitamin D3: potential role in the nervous system.Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.Treatment strategies for lysosomal storage disorders.Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease.Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-Β-Cyclodextrin.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Consensus clinical management guidelines for Niemann-Pick disease type C.Miglustat in Niemann-Pick disease type C patients: a review
P2860
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P2860
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
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name
Stable or improved neurologica ...... an observational cohort study.
@ast
Stable or improved neurologica ...... an observational cohort study.
@en
type
label
Stable or improved neurologica ...... an observational cohort study.
@ast
Stable or improved neurologica ...... an observational cohort study.
@en
prefLabel
Stable or improved neurologica ...... an observational cohort study.
@ast
Stable or improved neurologica ...... an observational cohort study.
@en
P2093
P2860
P1476
Stable or improved neurologica ...... an observational cohort study.
@en
P2093
Audrey Muller
Barbara Schwierin
Marie T Vanier
Mercè Pineda
NPC Registry investigators
Peter Cornelisse
P2860
P2888
P356
10.1186/S13023-015-0284-Z
P577
2015-05-28T00:00:00Z
P5875
P6179
1024344077