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Journal Abstract Search

158 related items for PubMed ID: 38790666

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  • 2. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
    Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.
    JIMD Rep; 2015; 23():17-26. PubMed ID: 25772320
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  • 3. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
    Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X.
    Mol Genet Metab; 2020 Dec; 131(4):405-417. PubMed ID: 33257258
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  • 4. Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.
    Griffiths WJ, Yutuc E, Abdel-Khalik J, Crick PJ, Hearn T, Dickson A, Bigger BW, Hoi-Yee Wu T, Goenka A, Ghosh A, Jones SA, Covey DF, Ory DS, Wang Y.
    Free Radic Biol Med; 2019 Nov 20; 144():124-133. PubMed ID: 31009661
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  • 5. 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 20; 4():170-5. PubMed ID: 26981555
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  • 6. 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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  • 9. Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.
    Griffiths WJ, Gilmore I, Yutuc E, Abdel-Khalik J, Crick PJ, Hearn T, Dickson A, Bigger BW, Wu TH, Goenka A, Ghosh A, Jones SA, Wang Y.
    J Lipid Res; 2018 Jun 01; 59(6):1058-1070. PubMed ID: 29626102
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  • 12. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
    Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.
    J Lipid Res; 2011 Jul 01; 52(7):1435-45. PubMed ID: 21518695
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  • 13. LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease.
    Maekawa M, Misawa Y, Sotoura A, Yamaguchi H, Togawa M, Ohno K, Nittono H, Kakiyama G, Iida T, Hofmann AF, Goto J, Shimada M, Mano N.
    Steroids; 2013 Oct 01; 78(10):967-72. PubMed ID: 23751200
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  • 17. Chemical synthesis and biochemical properties of cholestane-5α,6β-diol-3-sulfonate: A non-hydrolysable analogue of cholestane-5α,6β-diol-3β-sulfate.
    de Médina P, Ayadi S, Soulès R, Payre B, Rup-Jacques S, Silvente-Poirot S, Samadi M, Poirot M.
    J Steroid Biochem Mol Biol; 2023 Nov 01; 234():106396. PubMed ID: 37683773
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  • 18. Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
    Lopergolo D, Bianchi S, Gallus GN, Locci S, Pucci B, Leoni V, Gasparini D, Tardelli E, Chincarini A, Sestini S, Santorelli FM, Zetterberg H, De Stefano N, Mignarri A.
    J Med Genet; 2024 Mar 21; 61(4):332-339. PubMed ID: 37989569
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  • 19. Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
    Hammerschmidt TG, Encarnação M, Lamberty Faverzani J, de Fátima Lopes F, Poswar de Oliveira F, Fischinger Moura de Sousa C, Ribeiro I, Alves S, Giugliani R, Regla Vargas C.
    Arch Biochem Biophys; 2023 Feb 21; 735():109510. PubMed ID: 36608914
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