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Journal Abstract Search

376 related items for PubMed ID: 29290526

  • 1. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.
    Mol Genet Metab; 2018 Feb; 123(2):76-84. PubMed ID: 29290526
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  • 2. LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
    Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.
    PLoS One; 2017 Feb; 12(7):e0181700. PubMed ID: 28749998
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  • 3. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
    Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, Duro G, Tummolo A, Padoan A, Plebani M, Burlina AB.
    Clin Chem Lab Med; 2019 Nov 26; 57(12):1863-1874. PubMed ID: 31091195
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  • 4. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
    Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB.
    Clin Chem Lab Med; 2017 Mar 01; 55(3):403-414. PubMed ID: 27533120
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  • 5. Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
    Kubaski F, Burlina A, Pereira D, Silva C, Herbst ZM, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Poletto E, Bernardes TM, Carvalho GS, Sorte NB, Ferreira FN, Perin N, Clivati MR, de Santana MTS, Lobos SFG, Leão EKEA, Coutinho MP, Pinos PV, Santos MLSF, Penatti DA, Lourenço CM, Polo G, Giugliani R.
    Orphanet J Rare Dis; 2022 Nov 08; 17(1):407. PubMed ID: 36348386
    [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 08; 48(9):596-602. PubMed ID: 25819840
    [Abstract] [Full Text] [Related]

  • 7. High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.
    Polo G, Burlina A, Furlan F, Kolamunnage T, Cananzi M, Giordano L, Zaninotto M, Plebani M, Burlina A.
    Clin Chem Lab Med; 2016 Jul 01; 54(7):1221-9. PubMed ID: 26650075
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  • 12. 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
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  • 13. 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 01; 486():387-394. PubMed ID: 30153451
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  • 14. Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.
    Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J.
    Clin Chim Acta; 2016 Jun 01; 457():8-11. PubMed ID: 26975750
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  • 15. 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 01; 4():170-5. PubMed ID: 26981555
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  • 17. 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
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  • 18. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease.
    Brinkman J, Wijburg FA, Hollak CE, Groener JE, Verhoek M, Scheij S, Aten J, Boot RG, Aerts JM.
    J Inherit Metab Dis; 2005 Apr 01; 28(1):13-20. PubMed ID: 15702402
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  • 20. 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 01; 57(3):361-7. PubMed ID: 26733147
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