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Journal Abstract Search

165 related items for PubMed ID: 2715782

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  • 24. 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; 153():101-10. PubMed ID: 7164890
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  • 25. 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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  • 26. Therapy of urea cycle enzymopathies: three case studies.
    Batshaw ML, Painter MJ, Sproul GT, Schafer IA, Thomas GH, Brusilow S.
    Johns Hopkins Med J; 1981 Jan; 148(1):34-40. PubMed ID: 7453005
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  • 27. [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; 28(1):49-54. PubMed ID: 3279887
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  • 33. First case of argininosuccinic aciduria in Japan: clinical observations and treatment.
    Sakiyama T, Suzuki T, Owada M, Kitagawa T.
    Adv Exp Med Biol; 1982 Jan; 153():95-100. PubMed ID: 7164926
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  • 34. Argininosuccinic aciduria--an underdiagnosed cause of neonatal death?
    White IH, Rose SJ, Lloyd DJ.
    Scott Med J; 1989 Feb; 34(1):408-9. PubMed ID: 2711176
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  • 35. Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
    Grisar T.
    Adv Exp Med Biol; 1982 Feb; 153():83-93. PubMed ID: 7164925
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  • 36. 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 Feb; 57(3):282-4. PubMed ID: 7250970
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  • 38. Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
    Sijens PE, Reijngoud DJ, Soorani-Lunsing RJ, Oudkerk M, van Spronsen FJ.
    Mol Genet Metab; 2006 May; 88(1):100-2. PubMed ID: 16343968
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  • 39. Pregnancy and argininosuccinic aciduria.
    Worthington S, Christodoulou J, Wilcken B, Peat B.
    J Inherit Metab Dis; 1996 May; 19(5):621-3. PubMed ID: 8892017
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  • 40. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
    Illsinger S, Lücke T, Zschocke J, Gibson KM, Das AM.
    Pediatr Neurol; 2004 Mar; 30(3):213-5. PubMed ID: 15033206
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