(Q44295285)

1 December 2017

Niemann-Pick disease type C in adults (English)

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Niemann-Pick disease, type C1

1 December 2017

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J Imrie

1

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1 December 2017

S Vijayaraghaven

2

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1 December 2017

C Whitehouse

3

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1 December 2017

S Harris

4

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1 December 2017

L Heptinstall

5

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1 December 2017

H Church

6

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1 December 2017

A Cooper

7

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1 December 2017

G T N Besley

8

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1 December 2017

J E Wraith

9

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1 December 2017

1 October 2002

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Journal of Inherited Metabolic Disease

1 December 2017

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1 December 2017

25

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1 December 2017

491-500

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1 December 2017

6

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https://scigraph.springernature.com/pub.10.1023/a:1021259403196

1 December 2017

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cites work

Progesterone blocks cholesterol translocation from lysosomes

1 reference

12 December 2020

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

1 reference

12 December 2020

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

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12 December 2020

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

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12 December 2020

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

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12 December 2020

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

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12 December 2020

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk

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12 December 2020

Transmembrane molecular pump activity of Niemann-Pick C1 protein

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12 December 2020

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

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12 December 2020

Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice.

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12 December 2020

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

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12 December 2020

Identifiers

DOI

10.1023/A:1021259403196

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Dimensions Publication ID

1 December 2017

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1 reference