Misdiagnosis of Niemann-Pick disease type C as Gaucher disease (Q34647676)

3 August 2017

Misdiagnosis of Niemann-Pick disease type C as Gaucher disease (English)

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Niemann-Pick disease, type C1

3 August 2017

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Sarah M Lo

1

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3 August 2017

Joseph McNamara

series ordinal

2

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3 August 2017

Margherita R Seashore

series ordinal

3

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3 August 2017

Pramod K Mistry

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4

1 reference

3 August 2017

30 September 2010

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Journal of Inherited Metabolic Disease

3 August 2017

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3 August 2017

33 Suppl 3

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3 August 2017

S429-33

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9214-3

3 August 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Niemann-Pick Disease Type C: from molecule to clinic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Phenotype, diagnosis, and treatment of Gaucher's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Substrate reduction therapy of glycosphingolipid storage disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Niemann-Pick disease type C.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053412

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

7 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9214-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9214-3

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9214-3

Sphingolipid storage induces accumulation of intracellular cholesterol by stimulating SREBP-1 cleavage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9214-3

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9214-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9214-3

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

21 January 2018

1 reference

12 December 2020

Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes

1 reference

12 December 2020

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

1 reference

12 December 2020

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

1 reference

12 December 2020

10.1007/S10545-010-9214-3

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

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3 August 2017

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