A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. (Q35775542)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26082315%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease (English)

1 reference

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17 February 2020

0 references

1

1 reference

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17 February 2020

Ulrike Grittner

3

1 reference

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17 February 2020

Mario Cortina-Borja

9

1 reference

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17 February 2020

Frances Platt

11

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17 February 2020

author name string

Hermann Mascher

2

1 reference

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17 February 2020

Sabrina Eichler

4

1 reference

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17 February 2020

Guido Kramp

5

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17 February 2020

Jan Lukas

6

1 reference

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17 February 2020

Danielle te Vruchte

7

1 reference

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17 February 2020

Nada Al Eisa

8

1 reference

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17 February 2020

Forbes D Porter

10

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17 February 2020

Arndt Rolfs

12

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17 February 2020

publication date

17 June 2015

1 reference

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Orphanet Journal of Rare Diseases

17 February 2020

published in

1 reference

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17 February 2020

volume

10

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17 February 2020

page(s)

78

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Creative Commons Attribution 4.0 International

17 February 2020

copyright license

start time

17 June 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s13023-015-0274-1

0 references

cites work

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

1 reference

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Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

12 July 2018

1 reference

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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

12 July 2018

1 reference

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Niemann-Pick disease type C symptomatology: an expert-based clinical description

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.

12 July 2018

1 reference

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479076

Lysosulfatide (galactosylsphingosine-3-O-sulfate) from metachromatic leukodystrophy and normal human brain

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26082315

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26082315

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26082315

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-015-0274-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26082315%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26082315%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26082315%20AND%20SRC:MED&resulttype=core&format=json