Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
about
Niemann-Pick disease treatment: a systematic review of clinical trialsNiemann-Pick disease type C symptomatology: an expert-based clinical descriptionCervical lymph node diseases in childrenLong term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CMiglustat: a review of its use in Niemann-Pick disease type C.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.Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.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.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.Disease and patient characteristics in NP-C patients: findings from an international disease registry.Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsNormalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.Treatment of lysosomal storage disorders: successes and challenges.Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cells.Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.Pharmacologic Treatment Assigned for Niemann Pick Type C1 Disease Partly Changes Behavioral Traits in Wild-Type Mice.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.Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Consensus clinical management guidelines for Niemann-Pick disease type C.Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.Miglustat in Niemann-Pick disease type C patients: a review
P2860
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P2860
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
description
2012 nî lūn-bûn
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2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
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name
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@ast
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@en
type
label
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@ast
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@en
prefLabel
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@ast
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@en
P2093
P2860
P356
P1476
Miglustat therapy in the Frenc ...... h Niemann-Pick disease type C.
@en
P2093
Brigitte Chabrol
Bénédicte Héron
Didier Eyer
Dries Dobbelaere
François Labarthe
Frédéric Sedel
Hélène Maurey
Hélène Ogier
Jean-Marie Cuisset
Julien Baruteau
P2860
P2888
P356
10.1186/1750-1172-7-36
P577
2012-06-07T00:00:00Z
P5875
P6179
1009197305