Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis (Q42974029)

12 November 2017

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title

Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis (English)

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Niemann–Pick disease, type C

12 November 2017

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Marie T Vanier

1

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PubMed ID

20620894

12 November 2017

language of work or name

French

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publication date

1 June 2010

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12 November 2017

Archives de Pediatrie

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12 November 2017

17 Suppl 2

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12 November 2017

S41-4

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Niemann-Pick disease type C.

12 November 2017

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

The pathogenesis of Niemann-Pick type C disease: a role for autophagy?

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Niemann-Pick disease type C

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https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970010-5

7 January 2021

10.1016/S0929-693X(10)70010-5

Identifiers

DOI

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12 November 2017

1 reference

PubMed ID

20620894