Clinical diagnosis of the adult form of Niemann-Pick type C disease (Q42974026)

12 November 2017

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title

Clinical diagnosis of the adult form of Niemann-Pick type C disease (English)

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12 November 2017

F Sedel

1

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PubMed ID

20620896

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

S50-3

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Niemann-Pick disease type C.

12 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Niemann-Pick type C disease in a 68-year-old patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

An adult with a non-neuronopathic form of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Niemann-Pick disease type C in adults

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Bipolar Disorder and Niemann-Pick Disease Type C

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2810%2970012-9

7 January 2021

10.1016/S0929-693X(10)70012-9

Identifiers

DOI

1 reference

12 November 2017

1 reference

PubMed ID

20620896