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Journal Abstract Search

133 related items for PubMed ID: 2501588

  • 1. Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia.
    Aramaki S, Lehotay D, Nyhan WL, MacLeod PM, Sweetman L.
    J Inherit Metab Dis; 1989; 12(1):86-8. PubMed ID: 2501588
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  • 3. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.
    Van Hove JL, Chace DH, Kahler SG, Millington DS.
    J Inherit Metab Dis; 1993; 16(2):361-7. PubMed ID: 8411998
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  • 5. Antenatal diagnosis of propionic acidaemia by methylcitrate determination.
    Dhondt JL, Farriaux JP, Amedee Manesme O, Cartigny B, Sweetman L, Duran M.
    J Inherit Metab Dis; 1981; 4(2):49-50. PubMed ID: 6790842
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  • 7. Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.
    Kuhara T, Ohse M, Inoue Y, Yorifuji T, Sakura N, Mitsubuchi H, Endo F, Ishimatu J.
    J Inherit Metab Dis; 2002 May; 25(2):98-106. PubMed ID: 12118533
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  • 8. Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
    Inoue Y, Kuhara T.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2002 Aug 25; 776(1):71-7. PubMed ID: 12127327
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  • 9. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
    Pérez-Cerdá C, Merinero B, Martí M, Cabrera JC, Peña L, García MJ, Gangoiti J, Sanz P, Rodríguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M.
    Eur J Pediatr; 1998 Jan 25; 157(1):50-2. PubMed ID: 9461363
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  • 10. Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.
    Inoue Y, Ohse M, Shinka T, Kuhara T.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul 15; 870(2):160-3. PubMed ID: 18343209
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  • 11. Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.
    Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, García MJ, Urbón A, Díaz Recasens J, Ramos C, Ayuso C, Ugarte M.
    J Inherit Metab Dis; 1989 Jul 15; 12 Suppl 2():274-6. PubMed ID: 2512424
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  • 12. 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 15; 24(2):58-61. PubMed ID: 27216769
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  • 13. [2-Methyl-3-oxovaleric acid: a characteristic metabolite in propionic acidemia].
    Lehnert W, Junker A.
    Clin Chim Acta; 1980 May 21; 104(1):47-51. PubMed ID: 7389125
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  • 14. [The neonatal form of propionic acidemia].
    Figueras Aloy J, Ribes Rubio A, Vilaseca Busca MA, Lluch Mir M, Brines Godino P, Jiménez González R, Cruz Hernández M.
    An Esp Pediatr; 1988 Dec 21; 29(6):459-62. PubMed ID: 3245641
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  • 15. Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
    Rolland MO, Divry P, Mandon G, Guibaud P, Mathieu M, Sournies G, Thoulon JM.
    J Inherit Metab Dis; 1990 Dec 21; 13(3):345-8. PubMed ID: 2122098
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  • 16. Cardiomyopathy in propionic acidaemia.
    Massoud AF, Leonard JV.
    Eur J Pediatr; 1993 May 21; 152(5):441-5. PubMed ID: 8319715
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  • 18. Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.
    Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY.
    Clin Chim Acta; 2018 Dec 21; 487():41-45. PubMed ID: 30217751
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