(Q35067272)

6 August 2017

title

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

1 reference

6 August 2017

Rohini Sidhu

2

0 references

Anneliese O Speak

object named as

Anneliese O Speak

5

0 references

Frances Platt

object named as

Frances M Platt

7

0 references

author name string

Xuntian Jiang

1

1 reference

6 August 2017

Forbes D Porter

3

1 reference

6 August 2017

Nicole M Yanjanin

4

1 reference

6 August 2017

Danielle Taylor te Vruchte

6

1 reference

6 August 2017

Hideji Fujiwara

8

1 reference

6 August 2017

David E Scherrer

9

1 reference

6 August 2017

Jessie Zhang

10

1 reference

6 August 2017

Dennis J Dietzen

11

1 reference

6 August 2017

Jean E Schaffer

12

1 reference

6 August 2017

Daniel S Ory

13

1 reference

6 August 2017

publication date

24 April 2011

1 reference

Journal of Lipid Research

6 August 2017

published in

1 reference

6 August 2017

volume

52

1 reference

6 August 2017

issue

7

1 reference

6 August 2017

page(s)

1435-1445

1 reference

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Pitfalls associated with the use of liquid chromatography-tandem mass spectrometry in the clinical laboratory

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

The adult form of Niemann-Pick disease type C.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Niemann-Pick type C: a disorder of cellular cholesterol trafficking

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Oxysterols: modulators of cholesterol metabolism and other processes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Assay of unesterified cholesterol-5,6-epoxide in human serum by isotope dilution mass spectrometry. Levels in the healthy state and in hyperlipoproteinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Analysis of cholesterol, cholesterol-5,6-epoxides and cholestane-3 beta,5 alpha,6 beta-triol in nipple aspirates of human breast fluid by gas chromatography/mass spectrometry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Are liquid chromatography/electrospray tandem quadrupole fragmentation ratios unequivocal confirmation criteria?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Validation of a gas chromatography-mass spectrometry method for the analysis of sterol oxidation products in serum

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Assessing analytical specificity in quantitative analysis using tandem mass spectrometry

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Niemann-pick disease type C in neonatal cholestasis at a North American Center

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122908

Sterol synthesis. Preparation and characterization of fluorinated and deuterated analogs of oxygenated derivatives of cholesterol

16 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21518695

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Simultaneous quantification of several cholesterol autoxidation and monohydroxylation products by isotope-dilution mass spectrometry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21518695

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1194/JLR.D015735

1 reference

6 August 2017

1 reference

6 August 2017

1 reference