Long-term miglustat therapy in children with Niemann-Pick disease type C. - Wikidata - wikimedia - TriplyDB

Long-term miglustat therapy in children with Niemann-Pick disease type C.

Long-term miglustat therapy in children with Niemann-Pick disease type C.

http://www.wikidata.org/entity/Q43263006

about

Niemann-Pick disease type C Diagnostic workup and management of patients with suspected Niemann-Pick type C disease Niemann-Pick disease treatment: a systematic review of clinical trials Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat Drug treatment of inborn errors of metabolism: a systematic review Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease Recent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatrician Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C Intracisternal 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 C Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease Niemann-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 miglustat Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker Defective 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.

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P2860

Long-term miglustat therapy in children with Niemann-Pick disease type C.

http://www.wikidata.org/entity/Q43263006

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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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

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Journal of Child Neurology

P1476

Long-term miglustat therapy in children with Niemann-Pick disease type C.

@en

P2093

Cecile Luzy

http://www.w3.org/2001/XMLSchema#string

Darleen Vecchio

http://www.w3.org/2001/XMLSchema#string

Elizabeth Jacklin

http://www.w3.org/2001/XMLSchema#string

Harbajan Chadha-Boreham

http://www.w3.org/2001/XMLSchema#string

James E Wraith

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Ruben Giorgino

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P2860

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

Identification of HE1 as the second gene of Niemann-Pick C disease

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Prevalence of lysosomal storage disorders.

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.

Niemann-Pick disease type C.

Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport.

Consequences of NPC1 and NPC2 loss of function in mammalian neurons.

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300-305

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3

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25

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Marc C. Patterson

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2009-10-12T00:00:00Z

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26888433

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19822772

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