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Journal Abstract Search

148 related items for PubMed ID: 8149628

  • 1. An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy.
    Burns SP, Iles RA.
    Clin Chim Acta; 1993 Nov 30; 221(1-2):1-13. PubMed ID: 8149628
    [Abstract] [Full Text] [Related]

  • 2. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
    Glick NR, Snodgrass PJ, Schafer IA.
    Am J Hum Genet; 1976 Jan 30; 28(1):22-30. PubMed ID: 174426
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  • 3. High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man.
    Portolés M, Rubio V.
    J Inherit Metab Dis; 1986 Jan 30; 9(1):31-8. PubMed ID: 3088323
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  • 4. Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
    Kobayashi K, Itakura Y, Saheki T, Nakano K, Sase M, Oyanagi K, Okamoto R, Mino M.
    Clin Chim Acta; 1986 Aug 30; 159(1):59-67. PubMed ID: 3757266
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  • 5. Citrate therapy in argininosuccinate lyase deficiency.
    Iafolla AK, Gale DS, Roe CR.
    J Pediatr; 1990 Jul 30; 117(1 Pt 1):102-5. PubMed ID: 2370602
    [No Abstract] [Full Text] [Related]

  • 6. Pregnancy and argininosuccinic aciduria.
    Worthington S, Christodoulou J, Wilcken B, Peat B.
    J Inherit Metab Dis; 1996 Jul 30; 19(5):621-3. PubMed ID: 8892017
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  • 7. Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy.
    Burns SP, Woolf DA, Leonard JV, Iles RA.
    Clin Chim Acta; 1992 Jul 31; 209(1-2):47-60. PubMed ID: 1395038
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  • 8. A mouse model of argininosuccinic aciduria: biochemical characterization.
    Reid Sutton V, Pan Y, Davis EC, Craigen WJ.
    Mol Genet Metab; 2003 Jan 31; 78(1):11-6. PubMed ID: 12559843
    [Abstract] [Full Text] [Related]

  • 9. [Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families].
    Briones Godino P, Rodes Monegal M, Vilaseca Busca MA, Maya Victoria A, Lizárraga Vidaurreta I, Barbero Aguirre P, Pascual Castroviejo I.
    An Esp Pediatr; 1988 Jan 31; 28(1):49-54. PubMed ID: 3279887
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  • 10. Argininosuccinic aciduria: prenatal studies in a family at risk.
    Fleisher LD, Rassin DK, Desnick RJ, Salwen HR, Rogers P, Bean M, Gaull GE.
    Am J Hum Genet; 1979 Jul 31; 31(4):439-45. PubMed ID: 484552
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  • 11. [Attempt at antenatal diagnosis of argininosuccinic aciduria].
    Dhondt JL, Farriaux JP, Pollitt RJ, Vamos E, Richard P, Blanckaert D, Delecour M, Monnier JC, Fontaine G.
    Ann Genet; 1976 Mar 31; 19(1):23-7. PubMed ID: 1084118
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  • 13. Mild variant of argininosuccinic aciduria.
    Schutgens RB, Beemer FA, Tegelaers WH, de Groot WP.
    J Inherit Metab Dis; 1980 Mar 31; 2(1):13-4. PubMed ID: 6796754
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  • 18. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
    Mandell R, Packman S, Laframboise R, Golbus MS, Schmidt K, Workman L, Saudubray JM, Shih VE.
    Prenat Diagn; 1996 May 31; 16(5):419-24. PubMed ID: 8843999
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  • 19. [Citrullinemia and argininosuccinic aciduria].
    Kawamura M.
    Nihon Rinsho; 1978 May 31; Suppl():1354-5. PubMed ID: 691352
    [No Abstract] [Full Text] [Related]

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