Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. (Q36093226)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26239048%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency (English)

1 reference

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cerebrotendinous xanthomatosis

20 February 2020

main subject

1 reference

4

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20 February 2020

Emilio Ros

5

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20 February 2020

Javier de las Heras

6

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20 February 2020

Marisa Girós

7

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20 February 2020

Judit García-Villoria

3

object named as

Judit García-Villoria

1 reference

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20 February 2020

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Antonia Ribes

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20 February 2020

2

Angela Arias

1 reference

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20 February 2020

1

Sonia Pajares

1 reference

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20 February 2020

author name string

Maria J Coll

8

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20 February 2020

publication date

3 August 2015

1 reference

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Journal of Lipid Research

20 February 2020

published in

1 reference

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20 February 2020

volume

56

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20 February 2020

issue

10

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20 February 2020

page(s)

1926-1935

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Complex lipid trafficking in Niemann-Pick disease type C.

20 February 2020

cites work

1 reference

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2 October 2017

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2 October 2017

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3β,5α,6β-Cholestanetriol and 25-hydroxycholesterol accumulate in ATP-binding cassette transporter G1 (ABCG1)-deficiency

2 October 2017

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2 October 2017

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2 October 2017

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

2 October 2017

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

2 October 2017

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2 October 2017

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

2 October 2017

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

2 October 2017

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

2 October 2017

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Analysis of oxysterols by electrospray tandem mass spectrometry

2 October 2017

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Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX.

2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 July 2018

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23 September 2018

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23 September 2018

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23 September 2018

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23 September 2018

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23 September 2018

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LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

5 December 2018

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1194/JLR.M060343

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26239048%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

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20 February 2020

1 reference