(Q33460275)

27 July 2017

Miglustat: a review of its use in Niemann-Pick disease type C. (English)

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Katherine A Lyseng-Williamson

27 July 2017

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object named as

Katherine A Lyseng-Williamson

series ordinal

1

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publication date

1 January 2014

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27 July 2017

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27 July 2017

74

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27 July 2017

1

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27 July 2017

61-74

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https://scigraph.springernature.com/pub.10.1007/s40265-013-0164-6

27 July 2017

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Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

21 January 2018

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

21 January 2018

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Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

21 January 2018

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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

21 January 2018

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

21 January 2018

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The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

21 January 2018

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Niemann-Pick type C pathogenesis and treatment: from statins to sugars.

21 January 2018

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Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

21 January 2018

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The natural history of Niemann-Pick disease type C in the UK.

21 January 2018

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Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

21 January 2018

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Disease and patient characteristics in NP-C patients: findings from an international disease registry

21 January 2018

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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

21 January 2018

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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

21 January 2018

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Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

21 January 2018

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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

21 January 2018

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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

21 January 2018

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Substrate reduction therapy for glycosphingolipid storage disorders

21 January 2018

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Critical role for glycosphingolipids in Niemann-Pick disease type C.

21 January 2018

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Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport

21 January 2018

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Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

21 January 2018

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Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy

21 January 2018

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Oxidative stress in Niemann-Pick disease, type C

21 January 2018

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Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study

21 January 2018

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Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C.

21 January 2018

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Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception

21 January 2018

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Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities

21 January 2018

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Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin

21 January 2018

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Miglustat has no apparent effect on spermatogenesis in normal men.

21 January 2018

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Influence of food intake on the pharmacokinetics of miglustat, an inhibitor of glucosylceramide synthase

21 January 2018

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

21 January 2018

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Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

21 January 2018

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

21 January 2018

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Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

21 January 2018

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Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

21 January 2018

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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

21 January 2018

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Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.

21 January 2018

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Motion analysis of a child with Niemann-Pick disease type C treated with miglustat

21 January 2018

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Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.

21 January 2018

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Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

21 January 2018

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

21 January 2018

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Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

21 January 2018

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Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

21 January 2018

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24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy

21 January 2018

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Efficacy of miglustat in Niemann-Pick C disease: a single centre experience

21 January 2018

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Early miglustat therapy in infantile Niemann-Pick disease type C.

21 January 2018

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Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C.

21 January 2018

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Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study.

21 January 2018

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Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C.

21 January 2018

1 reference

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Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS40265-013-0164-6

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS40265-013-0164-6

Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS40265-013-0164-6

Gastrointestinal disturbances and their management in miglustat-treated patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS40265-013-0164-6

Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS40265-013-0164-6

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS40265-013-0164-6

Molecular analysis of 30 Niemann-Pick type C patients from Spain

21 January 2018

1 reference

12 December 2020

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

1 reference

12 December 2020

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

1 reference

12 December 2020

The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat

1 reference

12 December 2020

Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases

1 reference

12 December 2020

A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options

1 reference

12 December 2020

N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing

1 reference

12 December 2020

The adult form of Niemann-Pick disease type C.

1 reference

12 December 2020

10.1007/S40265-013-0164-6

Identifiers

DOI

1 reference

PubMed ID

24338084

Dimensions Publication ID

27 July 2017

0 references

1 reference

PubMed ID

24338084