Efficacy of miglustat in Niemann-Pick C disease: a single centre experience (Q45089846)

9 December 2017

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

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Niemann–Pick disease, type C

9 December 2017

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3

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9 December 2017

Adele D'Amico

2

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Carlo Dionisi-Vici

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Carlo Dionisi-Vici

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author name string

Virginia Maria Ginocchio

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9 December 2017

Ferdinando Ceravolo

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9 December 2017

Andrea Dardis

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9 December 2017

Daniela Verrigni

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9 December 2017

Bruno Bembi

7

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9 December 2017

Federica Deodato

9

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9 December 2017

7 August 2013

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Molecular Genetics and Metabolism

9 December 2017

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9 December 2017

110

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9 December 2017

329-335

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9 December 2017

3

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Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

9 December 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Niemann-Pick disease type C

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Atypical presentation of a wandering spleen in niemann-pick disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.019

10.1016/J.YMGME.2013.07.019

7 January 2021

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DOI

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9 December 2017

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