BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 1438381)

  • 21. Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
    Korematsu S; Kosugi Y; Kumamoto T; Yamaguchi S; Izumi T
    Pediatr Neurol; 2009 Aug; 41(2):151-3. PubMed ID: 19589468
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.
    Roe DS; Roe CR; Brivet M; Sweetman L
    Mol Genet Metab; 2000 Jan; 69(1):69-75. PubMed ID: 10655160
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The role of carnitine in intracellular metabolism.
    Bremer J
    J Clin Chem Clin Biochem; 1990 May; 28(5):297-301. PubMed ID: 2199593
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine.
    Primassin S; Ter Veld F; Mayatepek E; Spiekerkoetter U
    Pediatr Res; 2008 Jun; 63(6):632-7. PubMed ID: 18317232
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.
    Dessein AF; Fontaine M; Dobbelaere D; Mention-Mulliez K; Martin-Ponthieu A; Briand G; Vamecq J
    Clin Chim Acta; 2009 Aug; 406(1-2):23-6. PubMed ID: 19422814
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
    Wasant P; Matsumoto I; Naylor E; Liammongkolkul S
    J Med Assoc Thai; 2002 Aug; 85 Suppl 2():S710-9. PubMed ID: 12403251
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Acylcarnitines in the urine of a patient with medium chain acyl-CoA dehydrogenase (MCAD) deficiency and in normal children.
    Schmidt-Sommerfeld E; Penn D; Kerner J; Bieber LL
    Prog Clin Biol Res; 1990; 321():403-9. PubMed ID: 2326301
    [No Abstract]   [Full Text] [Related]  

  • 28. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
    Bonnet D; Martin D; Pascale De Lonlay ; Villain E; Jouvet P; Rabier D; Brivet M; Saudubray JM
    Circulation; 1999 Nov; 100(22):2248-53. PubMed ID: 10577999
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
    Yuasa M; Hata I; Sugihara K; Isozaki Y; Ohshima Y; Hara K; Tajima G; Shigematsu Y
    Dis Markers; 2019; 2019():2984747. PubMed ID: 30881520
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
    Van Hove JL; Zhang W; Kahler SG; Roe CR; Chen YT; Terada N; Chace DH; Iafolla AK; Ding JH; Millington DS
    Am J Hum Genet; 1993 May; 52(5):958-66. PubMed ID: 8488845
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Postnatal changes in neonatal acylcarnitine profile.
    Meyburg J; Schulze A; Kohlmueller D; Linderkamp O; Mayatepek E
    Pediatr Res; 2001 Jan; 49(1):125-9. PubMed ID: 11134502
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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; 855(1):80-7. PubMed ID: 17301002
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Altered carnitine metabolism in dialysis patients with reduced physical function may be due to dysfunctional fatty acid oxidation.
    Murphy WJ; Steiber A; Connery GC; Carder J; Spry L; Hoppel C
    Nephrol Dial Transplant; 2012 Jan; 27(1):304-10. PubMed ID: 21765185
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Inborn defects of fatty acid oxidation: a preventable cause of SIDS.
    Keppen LD; Randall B
    S D J Med; 1999 Jun; 52(6):187-8; disscussion 188-9. PubMed ID: 10388343
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation.
    Fontaine M; Briand G; Vallée L; Ricart G; Degand P; Divry P; Vianey-Saban C; Vamecq J
    Clin Chim Acta; 1996 Aug; 252(2):109-22. PubMed ID: 8853559
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects.
    Peng M; Fang X; Huang Y; Cai Y; Liang C; Lin R; Liu L
    J Chromatogr A; 2013 Dec; 1319():97-106. PubMed ID: 24169039
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.
    Forni S; Fu X; Palmer SE; Sweetman L
    Mol Genet Metab; 2010 Sep; 101(1):25-32. PubMed ID: 20591710
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].
    Delolme F; Vianey-Saban C; Guffon N; Favre-Bonvin J; Guibaud P; Becchi M; Mathieu M; Divry P
    Arch Pediatr; 1997 Sep; 4(9):819-26. PubMed ID: 9345561
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
    McGoey RR; Marble M
    J Pediatr; 2011 Jun; 158(6):1031-2. PubMed ID: 21429517
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
    Tonsgard JH; Stephens JK; Rhead WJ; Penn D; Horwitz AL; Kirschner BS; Whitington PF; Berger S; Tripp ME
    Pediatr Neurol; 1991; 7(2):125-30. PubMed ID: 2059253
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.