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Journal Abstract Search

194 related items for PubMed ID: 17951291

  • 1. Metabolomics identifies perturbations in human disorders of propionate metabolism.
    Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G.
    Clin Chem; 2007 Dec; 53(12):2169-76. PubMed ID: 17951291
    [Abstract] [Full Text] [Related]

  • 2. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR.
    Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
    [Abstract] [Full Text] [Related]

  • 3. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
    Malvagia S, Haynes CA, Grisotto L, Ombrone D, Funghini S, Moretti E, McGreevy KS, Biggeri A, Guerrini R, Yahyaoui R, Garg U, Seeterlin M, Chace D, De Jesus VR, la Marca G.
    Clin Chim Acta; 2015 Oct 23; 450():342-8. PubMed ID: 26368264
    [Abstract] [Full Text] [Related]

  • 4. [Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].
    Wu SN, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Li XY, Xu H, Gu XF.
    Zhonghua Yi Xue Za Zhi; 2013 Feb 26; 93(8):561-5. PubMed ID: 23663331
    [Abstract] [Full Text] [Related]

  • 5. Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
    Minkler PE, Stoll MS, Ingalls ST, Kerner J, Hoppel CL.
    Mol Genet Metab; 2015 Dec 26; 116(4):231-41. PubMed ID: 26458767
    [Abstract] [Full Text] [Related]

  • 6. Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
    Al-Dirbashi OY, McIntosh N, Chakraborty P.
    J Med Screen; 2017 Jun 26; 24(2):58-61. PubMed ID: 27216769
    [Abstract] [Full Text] [Related]

  • 7. Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
    Anzmann AF, Pinto S, Busa V, Carlson J, McRitchie S, Sumner S, Pandey A, Vernon HJ.
    Biochim Biophys Acta Mol Basis Dis; 2019 Dec 01; 1865(12):165538. PubMed ID: 31449969
    [Abstract] [Full Text] [Related]

  • 8. ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders.
    Primassin S, Spiekerkoetter U.
    Mol Genet Metab; 2010 Dec 01; 101(2-3):141-5. PubMed ID: 20637671
    [Abstract] [Full Text] [Related]

  • 9. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
    Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL.
    Pediatr Res; 1991 Jul 01; 30(1):15-22. PubMed ID: 1909779
    [Abstract] [Full Text] [Related]

  • 10. Quantitative analysis of amino acids and acylcarnitines combined with untargeted metabolomics using ultra-high performance liquid chromatography and quadrupole time-of-flight mass spectrometry.
    Roy C, Tremblay PY, Bienvenu JF, Ayotte P.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2016 Aug 01; 1027():40-9. PubMed ID: 27240302
    [Abstract] [Full Text] [Related]

  • 11. Untargeted metabolomic analysis hits the target.
    Bennett MJ.
    Clin Chem; 2007 Dec 01; 53(12):2037-9. PubMed ID: 18267928
    [No Abstract] [Full Text] [Related]

  • 12. Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
    Maines E, Catesini G, Boenzi S, Mosca A, Candusso M, Dello Strologo L, Martinelli D, Maiorana A, Liguori A, Olivieri G, Taurisano R, Piemonte F, Rizzo C, Spada M, Dionisi-Vici C.
    J Inherit Metab Dis; 2020 Nov 01; 43(6):1173-1185. PubMed ID: 32681732
    [Abstract] [Full Text] [Related]

  • 13. Biomarkers for drug development in propionic and methylmalonic acidemias.
    Longo N, Sass JO, Jurecka A, Vockley J.
    J Inherit Metab Dis; 2022 Mar 01; 45(2):132-143. PubMed ID: 35038174
    [Abstract] [Full Text] [Related]

  • 14. Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).
    Henriquez H, el Din A, Ozand PT, Subramanyam SB, al Gain SI.
    Brain Dev; 1994 Nov 01; 16 Suppl():86-93. PubMed ID: 7726386
    [Abstract] [Full Text] [Related]

  • 15. Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.
    Minkler PE, Hoppel CL.
    Anal Biochem; 1993 Aug 01; 212(2):510-8. PubMed ID: 8214594
    [Abstract] [Full Text] [Related]

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  • 17. Effect of sports activity on carnitine metabolism. Measurement of free carnitine, gamma-butyrobetaine and acylcarnitines by tandem mass spectrometry.
    Inoue F, Terada N, Nakajima H, Okochi M, Kodo N, Kizaki Z, Kinugasa A, Sawada T.
    J Chromatogr B Biomed Sci Appl; 1999 Aug 06; 731(1):83-8. PubMed ID: 10491992
    [Abstract] [Full Text] [Related]

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  • 19. ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
    Kobayashi H, Hasegawa Y, Endo M, Purevsuren J, Yamaguchi S.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2007 Aug 06; 855(1):80-7. PubMed ID: 17301002
    [Abstract] [Full Text] [Related]

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