These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 6723070)

  • 21. Renal handling of carnitine in secondary carnitine deficiency disorders.
    Stanley CA; Berry GT; Bennett MJ; Willi SM; Treem WR; Hale DE
    Pediatr Res; 1993 Jul; 34(1):89-97. PubMed ID: 8356025
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
    Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
    J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Metabolic studies of carnitine in a child with propionic acidemia.
    Kurczynski TW; Hoppel CL; Goldblatt PJ; Gunning WT
    Pediatr Res; 1989 Jul; 26(1):63-6. PubMed ID: 2771511
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 450():342-8. PubMed ID: 26368264
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Branched-chain organic acidurias.
    Ogier de Baulny H; Saudubray JM
    Semin Neonatol; 2002 Feb; 7(1):65-74. PubMed ID: 12069539
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A simplified and rapid quantitative assay for propionic and methylmalonic acids in urine.
    Frenkel EP; Kitchens RL
    J Lab Clin Med; 1975 Mar; 85(3):487-96. PubMed ID: 1117209
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
    Hori T; Fukao T; Kobayashi H; Teramoto T; Takayanagi M; Hasegawa Y; Yasuno T; Yamaguchi S; Kondo N
    Tohoku J Exp Med; 2010 Jul; 221(3):191-5. PubMed ID: 20543534
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
    Shigematsu Y; Hata I; Tajima G
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S283-8. PubMed ID: 20440648
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Renal handling of free and acylcarnitine in secondary carnitine deficiency.
    Ohtani Y; Nishiyama S; Matsuda I
    Neurology; 1984 Jul; 34(7):977-9. PubMed ID: 6539878
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry.
    Maeda Y; Ito T; Suzuki A; Kurono Y; Ueta A; Yokoi K; Sumi S; Togari H; Sugiyama N
    Rapid Commun Mass Spectrom; 2007; 21(5):799-806. PubMed ID: 17279485
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
    Huang Z; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Ji WJ; Li XY; Gu XF
    Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
    Bonafé L; Troxler H; Kuster T; Heizmann CW; Chamoles NA; Burlina AB; Blau N
    Mol Genet Metab; 2000 Apr; 69(4):302-11. PubMed ID: 10870848
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy.
    Davies SE; Iles RA; Stacey TE; de Sousa C; Chalmers RA
    Clin Chim Acta; 1991 Dec; 204(1-3):263-77. PubMed ID: 1819469
    [TBL] [Abstract][Full Text] [Related]  

  • 35. L-carnitine in inborn errors of metabolism: what is the evidence?
    Walter JH
    J Inherit Metab Dis; 2003; 26(2-3):181-8. PubMed ID: 12889659
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
    Iles RA; Chalmers RA; Hind AJ
    Clin Chim Acta; 1986 Dec; 161(2):173-89. PubMed ID: 3802528
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Applicability of an enzymatic quantitation of methylmalonic, propionic, and acetic acids in normal and megaloblastic states.
    Frenkel EP; Kitchens RL
    Blood; 1977 Jan; 49(1):125-37. PubMed ID: 830370
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 24(2):58-61. PubMed ID: 27216769
    [TBL] [Abstract][Full Text] [Related]  

  • 39. CAD MIKES: a new method for a rapid and unequivocal structural identification of organic acids in biological fluids. A first application to a case of methylmalonic aciduria.
    Rinaldo P; Chiandetti L; Zacchello F; Daolio S; Traldi P
    Biomed Mass Spectrom; 1984 Dec; 11(12):643-6. PubMed ID: 6529595
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
    Libert R; Van Hoof F; Thillaye M; Vincent MF; Nassogne MC; de Hoffmann E; Schanck A
    Clin Chim Acta; 2000 May; 295(1-2):87-96. PubMed ID: 10767396
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.