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Journal Abstract Search

196 related items for PubMed ID: 6589607

  • 1. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
    McInnes RR, Shih V, Chilton S.
    Proc Natl Acad Sci U S A; 1984 Jul; 81(14):4480-4. PubMed ID: 6589607
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  • 2. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
    Cathelineau L, Pham Dinh D, Briand P, Kamoun P.
    Hum Genet; 1981 Jul; 57(3):282-4. PubMed ID: 7250970
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  • 3. Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
    Cathelineau L, Pham Dinh D, Briand P, Kamoun P.
    Adv Exp Med Biol; 1982 Jul; 153():101-10. PubMed ID: 7164890
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  • 8. Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
    Linnebank M, Homberger A, Rapp B, Winter C, Marquardt T, Harms E, Koch HG.
    J Inherit Metab Dis; 2000 Jun; 23(4):308-12. PubMed ID: 10896281
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  • 9. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A.
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846631
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  • 10. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A.
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846632
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  • 13. Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
    González-Noriega A, Verduzco J, Prieto E, Velázquez A.
    J Inherit Metab Dis; 1980 Oct; 3(2):45-8. PubMed ID: 6777600
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  • 15. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
    Walker DC, McCloskey DA, Simard LR, McInnes RR.
    Proc Natl Acad Sci U S A; 1990 Dec; 87(24):9625-9. PubMed ID: 2263616
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  • 17. Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
    van der Heiden C, Gerards LJ, van Biervliet JP, Desplanque J, de Bree PK, van Sprang FJ, Wadman SK.
    Helv Paediatr Acta; 1976 Dec; 31(4-5):407-17. PubMed ID: 1017984
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  • 18. Citrate therapy in argininosuccinate lyase deficiency.
    Iafolla AK, Gale DS, Roe CR.
    J Pediatr; 1990 Jul; 117(1 Pt 1):102-5. PubMed ID: 2370602
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  • 20. 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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