(Q26999301)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

review article

0 references

title

Genetic and laboratory diagnostic approach in Niemann Pick disease type C (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

author name string

K McKay Bounford

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

language of work or name

1 reference

1 September 2014

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

27 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

7 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

27 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

volume

261 Suppl 2

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

page(s)

S569-75

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

13 March 2020

copyright license

start time

22 August 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Niemann-Pick disease type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

The adult form of Niemann-Pick disease type C.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Niemann-Pick disease type C.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

The structure and function of the Niemann-Pick C1 protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

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/10.1007%2FS00415-014-7386-8

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7386-8

Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141153

Molecular analysis of 30 Niemann-Pick type C patients from Spain

28 November 2018

1 reference

12 December 2020

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease

1 reference

12 December 2020

Type D Niemann-Pick disease (Nova Scotia variant). Ultrastructure of blood, skin fibroblasts, and bone marrow

1 reference

12 December 2020

Ultrastructural findings in skin from patients with Niemann-Pick disease, type C

1 reference

12 December 2020

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

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/S00415-014-7386-8

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 March 2020

1048367445

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Fatcat ID

release_pargc4a3ybhxrakt5ejtupqrbe

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pargc4a3ybhxrakt5ejtupqrbe

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

PubMed publication ID

25145893

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25145893%20AND%20SRC:MED&resulttype=core&format=json