Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us. (Q38022679)

27 August 2017

Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us. (English)

1 reference

27 August 2017

Hans-Hermann Klünemann

series ordinal

1

1 reference

PubMed ID

22746831

27 August 2017

Paramala J Santosh

series ordinal

2

1 reference

PubMed ID

22746831

27 August 2017

Frédéric Sedel

series ordinal

3

1 reference

27 August 2017

3 July 2012

1 reference

International Journal of Psychiatry in Clinical Practice

27 August 2017

1 reference

27 August 2017

16

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27 August 2017

3

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27 August 2017

162-169

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The differential diagnosis of childhood- and young adult-onset disorders that include psychosis

27 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Clinical approach to treatable inborn metabolic diseases: an introduction

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Developing treatment options for metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Psychiatric and behavioral manifestations of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

The adult form of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Adult onset Niemann-Pick disease type C presenting with psychosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

The neuropsychiatry of Niemann-Pick type C disease in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Therapy of Niemann-Pick disease, type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

In vivo quantification of brain injury in adult Niemann-Pick Disease Type C

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13651501.2012.687451

10.3109/13651501.2012.687451

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference

PubMed ID

22746831