Long-term miglustat therapy in children with Niemann-Pick disease type C.
about
Niemann-Pick disease type CDiagnostic 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 miglustatDrug treatment of inborn errors of metabolism: a systematic reviewNiemann-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 diseaseRecent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatricianProtein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 diseaseDefective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseLong 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.Gastrointestinal disturbances and their management in miglustat-treated patients.Miglustat: a review of its use in Niemann-Pick disease type C.A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat.Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases.Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.Oxidative stress in Niemann-Pick disease, type CEffects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseNiemann-Pick type C pathogenesis and treatment: from statins to sugars.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.Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat.Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C.Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease.β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustatRelative acidic compartment volume as a lysosomal storage disorder-associated biomarkerDefective cholesterol trafficking in Niemann-Pick C-deficient cells.Pharmacological small molecules for the treatment of lysosomal storage disorders.Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.Developing inhibitors of glycan processing enzymes as tools for enabling glycobiology.
P2860
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P2860
Long-term miglustat therapy in children with Niemann-Pick disease type C.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@en
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@nl
type
label
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@en
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@nl
prefLabel
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@en
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@nl
P2093
P2860
P356
P1476
Long-term miglustat therapy in children with Niemann-Pick disease type C.
@en
P2093
Cecile Luzy
Darleen Vecchio
Elizabeth Jacklin
Harbajan Chadha-Boreham
James E Wraith
Ruben Giorgino
P2860
P304
P356
10.1177/0883073809344222
P577
2009-10-12T00:00:00Z