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110 related items for PubMed ID: 32353361
1. The contribution of plasma oxysterols in the challenging diagnostic work-up of infantile cholestasis. Pietrobattista A, Veraldi S, Candusso M, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Sacchetti E, Catesini G, Deodato F, Boenzi S, Dionisi-Vici C. Clin Chim Acta; 2020 Aug; 507():181-186. PubMed ID: 32353361 [Abstract] [Full Text] [Related]
3. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients. Degtyareva AV, Proshlyakova TY, Gautier MS, Degtyarev DN, Kamenets EA, Baydakova GV, Rebrikov DV, Zakharova EY. BMC Med Genet; 2019 Jul 11; 20(1):123. PubMed ID: 31296176 [Abstract] [Full Text] [Related]
4. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C. Clin Chim Acta; 2018 Nov 11; 486():387-394. PubMed ID: 30153451 [Abstract] [Full Text] [Related]
5. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism. Boenzi S, Deodato F, Taurisano R, Goffredo BM, Rizzo C, Dionisi-Vici C. J Lipid Res; 2016 Mar 11; 57(3):361-7. PubMed ID: 26733147 [Abstract] [Full Text] [Related]
6. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Klinke G, Rohrbach M, Giugliani R, Burda P, Baumgartner MR, Tran C, Gautschi M, Mathis D, Hersberger M. Clin Biochem; 2015 Jun 11; 48(9):596-602. PubMed ID: 25819840 [Abstract] [Full Text] [Related]
7. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. Reunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, Rust S, Marquardt T. EBioMedicine; 2016 Feb 11; 4():170-5. PubMed ID: 26981555 [Abstract] [Full Text] [Related]
8. 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. Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW. Clin Chim Acta; 2014 Nov 01; 437():93-100. PubMed ID: 25038260 [Abstract] [Full Text] [Related]
9. Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations. Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A. Clin Chim Acta; 2016 Apr 01; 455():39-45. PubMed ID: 26790753 [Abstract] [Full Text] [Related]
10. Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C. Cooper JA, Church HJ, Wu HY. Mol Genet Metab; 2020 May 01; 130(1):77-86. PubMed ID: 32178982 [Abstract] [Full Text] [Related]
13. Plasma levels of oxysterols 7-ketocholesterol and cholestane-3β, 5α, 6β-triol in patients with allergic asthma. Zanjani BN, Samadi A, Isikhan SY, Lay I, Beyaz S, Gelincik A, Buyukozturk S, Arda N. J Asthma; 2023 Feb 01; 60(2):288-297. PubMed ID: 35188447 [Abstract] [Full Text] [Related]
15. Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease. Kannenberg F, Nofer JR, Schulte E, Reunert J, Marquardt T, Fobker M. J Steroid Biochem Mol Biol; 2017 May 01; 169():54-60. PubMed ID: 26940355 [Abstract] [Full Text] [Related]