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7-ketocholesterol and Niemann-Pick Disease, Type C

7-ketocholesterol has been researched along with Niemann-Pick Disease, Type C in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's9 (90.00)24.3611
2020's1 (10.00)2.80

Authors

AuthorsStudies
Dodo, K; Hashimoto, Y; Karaki, F; Noguchi-Yachide, T; Ohgane, K1
Akiyama, K; Eto, Y; Hossain, MA; Igarashi, J; Iwamoto, T; Miyajima, T; Wu, C1
Griffiths, WJ; Wang, Y1
Gu, X; Han, L; Lin, N; Qiu, W; Wang, Y; Ye, J; Zhang, H1
Gu, X; Han, L; Lin, N; Qiu, W; Wang, Y; Yang, R; Ye, J; Zhang, H1
Bertini, E; Boenzi, S; Carrozzo, R; Deodato, F; Dionisi-Vici, C; Johnson, DW; Martinelli, D; Pastore, A; Taurisano, R; Verrigni, D1
Arias, A; Coll, MJ; de las Heras, J; García-Villoria, J; Girós, M; Macías-Vidal, J; Pajares, S; Ribes, A; Ros, E1
Liebisch, G; Matysik, S; Pataj, Z; Schmitz, G1
Gao, XL; Gu, XF; Han, LS; Lin, N; Qiu, WJ; Ye, J; Zhan, X; Zhang, HW1
Dietzen, DJ; Fujiwara, H; Jiang, X; Ory, DS; Platt, FM; Porter, FD; Schaffer, JE; Scherrer, DE; Sidhu, R; Speak, AO; te Vruchte, DT; Yanjanin, NM; Zhang, J1

Reviews

1 review(s) available for 7-ketocholesterol and Niemann-Pick Disease, Type C

ArticleYear
Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.
    Current opinion in clinical nutrition and metabolic care, 2018, Volume: 21, Issue:2

    Topics: Biomarkers; Breast Neoplasms; Cholestanols; Humans; Imidazoles; Ketocholesterols; Lipid Metabolism; Niemann-Pick Disease, Type B; Niemann-Pick Disease, Type C; Smith-Lemli-Opitz Syndrome; Sterols; Xanthomatosis, Cerebrotendinous

2018

Other Studies

9 other study(ies) available for 7-ketocholesterol and Niemann-Pick Disease, Type C

ArticleYear
Structure-activity relationships of oxysterol-derived pharmacological chaperones for Niemann-Pick type C1 protein.
    Bioorganic & medicinal chemistry letters, 2014, Aug-01, Volume: 24, Issue:15

    Topics: Carrier Proteins; Dose-Response Relationship, Drug; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Molecular Structure; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Sterols; Structure-Activity Relationship

2014
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.
    PloS one, 2020, Volume: 15, Issue:9

    Topics: Bile Acids and Salts; Biomarkers; Chromatography, Liquid; Humans; Infant, Newborn; Ketocholesterols; Niemann-Pick Disease, Type C; Phosphorylcholine; Sphingosine; Tandem Mass Spectrometry

2020
Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease.
    Journal of lipid research, 2014, Volume: 55, Issue:2

    Topics: Biomarkers; Blood Chemical Analysis; Chromatography, Liquid; Heterozygote; Humans; Ketocholesterols; Mass Spectrometry; Niemann-Pick Disease, Type C; Niemann-Pick Diseases; Reference Values; Reproducibility of Results; Sphingomyelin Phosphodiesterase; Time Factors

2014
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
    Orphanet journal of rare diseases, 2014, Jun-10, Volume: 9

    Topics: Carrier Proteins; China; Female; Glycoproteins; Humans; Infant; Intracellular Signaling Peptides and Proteins; Ketocholesterols; Male; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Vesicular Transport Proteins

2014
A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
    Clinica chimica acta; international journal of clinical chemistry, 2014, Nov-01, Volume: 437

    Topics: Adolescent; Adult; Aminobutyrates; Biomarkers; Child; Child, Preschool; Cholestanols; Chromatography, Liquid; Female; Humans; Infant; Infant, Newborn; Ketocholesterols; Male; Niemann-Pick Disease, Type C; Spectrometry, Mass, Electrospray Ionization; Time Factors; Young Adult

2014
Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
    Journal of lipid research, 2015, Volume: 56, Issue:10

    Topics: Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Child, Preschool; Cholestanols; Female; Humans; Infant; Infant, Newborn; Ketocholesterols; Male; Middle Aged; Niemann-Pick Disease, Type C; Spectrometry, Mass, Electrospray Ionization; Wolman Disease; Xanthomatosis, Cerebrotendinous

2015
Quantification of oxysterols in human plasma and red blood cells by liquid chromatography high-resolution tandem mass spectrometry.
    Journal of chromatography. A, 2016, Mar-25, Volume: 1439

    Topics: Biomarkers; Chromatography, Liquid; Erythrocytes; Humans; Hydroxycholesterols; Ketocholesterols; Niemann-Pick Disease, Type C; Plasma; Stereoisomerism; Tandem Mass Spectrometry; Xanthomatosis, Cerebrotendinous

2016
[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2016, Jun-02, Volume: 54, Issue:6

    Topics: Adolescent; Carrier Proteins; Child; Child, Preschool; China; DNA Mutational Analysis; Exons; Female; Genetic Testing; Humans; Infant; Intracellular Signaling Peptides and Proteins; Ketocholesterols; Liver; Male; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Retrospective Studies; Spleen; Young Adult

2016
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
    Journal of lipid research, 2011, Volume: 52, Issue:7

    Topics: Adolescent; Adult; Calibration; Case-Control Studies; Child; Child, Preschool; Cholestanols; Chromatography, High Pressure Liquid; Female; Humans; Infant; Infant, Newborn; Ketocholesterols; Male; Middle Aged; Niemann-Pick Disease, Type C; Sarcosine; Sensitivity and Specificity; Tandem Mass Spectrometry; Time Factors; Young Adult

2011