cholestane-3,5,6-triol has been researched along with Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia in 8 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 7 (87.50) | 24.3611 |
| 2020's | 1 (12.50) | 2.80 |
| Authors | Studies |
|---|---|
| Church, HJ; Cooper, JA; Wu, HY | 1 |
| Bonatto, MP; Burin, MG; de Oliveira Schmitt Ribas, G; Giugliani, R; Hammerschmidt, TG; Kessler, RG; Michelin-Tirelli, K; Saraiva-Pereira, ML; Souza, FTS; Trapp, F; Vargas, CR | 1 |
| Bertini, E; Boenzi, S; Carrozzo, R; Deodato, F; Dionisi-Vici, C; Johnson, DW; Martinelli, D; Pastore, A; Taurisano, R; Verrigni, D | 1 |
| Arias, A; Coll, MJ; de las Heras, J; García-Villoria, J; Girós, M; Macías-Vidal, J; Pajares, S; Ribes, A; Ros, E | 1 |
| Fobker, M; Kannenberg, F; Marquardt, T; Nofer, JR; Reunert, J; Schulte, E | 1 |
| Du Chesne, I; Fobker, M; Kannenberg, F; Marquardt, T; Plate, M; Reunert, J; Rust, S; Wellhausen, J | 1 |
| Burin, M; de Mari, J; Deon, M; Giugliani, R; Kessler, R; Mescka, C; Michelin, K; Ribas, GS; Saraiva-Pereira, ML; Souza, HM; Trapp, F; Vargas, CR | 1 |
| 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, J | 1 |
8 other study(ies) available for cholestane-3,5,6-triol and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
| Article | Year |
|---|---|
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.
Topics: Adolescent; Adult; Aged; Biomarkers; Child; Child, Preschool; Cholestanols; Cholesterol; Chromatography, Liquid; Enzyme Replacement Therapy; Fibroblasts; Homozygote; Humans; Hyperlipoproteinemia Type II; Infant; Infant, Newborn; Limit of Detection; Middle Aged; Niemann-Pick Disease, Type C; Oxysterols; Sensitivity and Specificity; Tandem Mass Spectrometry; Wolman Disease | 2020 |
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Cholestanols; Female; Filipin; Glycoside Hydrolase Inhibitors; Hexosaminidases; Humans; Male; Membrane Glycoproteins; Mutation; Niemann-Pick Disease, Type C; Skin; Young Adult | 2018 |
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.
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.
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 |
Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.
Topics: Area Under Curve; Biomarkers; Calibration; Cholestanols; Dose-Response Relationship, Drug; Gas Chromatography-Mass Spectrometry; Humans; Limit of Detection; Linear Models; Niemann-Pick Disease, Type C; Reproducibility of Results; ROC Curve; Sequence Analysis, DNA | 2017 |
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Topics: Biomarkers; Carrier Proteins; Cholestanols; Glycoproteins; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Sphingomyelin Phosphodiesterase; Vesicular Transport Proteins | 2016 |
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
Topics: 1-Deoxynojirimycin; Brazil; Carrier Proteins; Cholestanols; Filipin; Glycoproteins; Hexosaminidases; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Staining and Labeling; Vesicular Transport Proteins | 2016 |
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
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 |