(Q42754434)

6 November 2017

An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. (English)

1 reference

6 November 2017

4

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6 November 2017

Helly R Goez

1

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6 November 2017

Francois D Jacob

2

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6 November 2017

Robert D Fealey

3

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6 November 2017

Vijay Ramaswamy

5

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6 November 2017

Rabin Persad

6

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6 November 2017

Edward S Johnson

7

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6 November 2017

Jerome Y Yager

8

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6 November 2017

27 January 2011

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Journal of Child Neurology

6 November 2017

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6 November 2017

26

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6 November 2017

4

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6 November 2017

518-521

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Movement disorders and inborn errors of metabolism in adults: a diagnostic approach

6 November 2017

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

An unusual neurological disorder with abnormal copper metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

The adult form of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

Dietary copper: cholesterol and lipoprotein metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810383983

21 January 2018

Identifiers

DOI

10.1177/0883073810383983

1 reference

6 November 2017

1 reference