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Journal Abstract Search

183 related items for PubMed ID: 1017984

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
    Talbot HW, Sumlin AB, Naylor EW, Guthrie R.
    Pediatrics; 1982 Oct; 70(4):526-31. PubMed ID: 7122151
    [Abstract] [Full Text] [Related]

  • 3.
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  • 4. [Argininosuccinate lyase deficiency].
    Matsubasa T.
    Ryoikibetsu Shokogun Shirizu; 1998 Oct; (18 Pt 1):179-81. PubMed ID: 9590021
    [No Abstract] [Full Text] [Related]

  • 5. Congenital hyperammonemic syndromes.
    Shih VE.
    Clin Perinatol; 1976 Mar; 3(1):3-14. PubMed ID: 954343
    [Abstract] [Full Text] [Related]

  • 6.
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  • 7. 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; 28(1):22-30. PubMed ID: 174426
    [Abstract] [Full Text] [Related]

  • 8. Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
    Grisar T.
    Adv Exp Med Biol; 1982 Jan; 153():83-93. PubMed ID: 7164925
    [No Abstract] [Full Text] [Related]

  • 9. 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
    [No Abstract] [Full Text] [Related]

  • 10. 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 Jan; 57(3):282-4. PubMed ID: 7250970
    [Abstract] [Full Text] [Related]

  • 11. 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
    [No Abstract] [Full Text] [Related]

  • 12. Carrier detection of urea cycle disorders.
    Ng WG, Oizumi J, Koch R, Shaw KN, McLaren J, Donnel GN, Carter M.
    Pediatrics; 1981 Sep; 68(3):448-52. PubMed ID: 7279481
    [No Abstract] [Full Text] [Related]

  • 13. [Neonatal hyperammonemia].
    Jaeken J, Devlieger H, Evens M, Casaer P, Eggermont E.
    Tijdschr Kindergeneeskd; 1983 Jun; 51(3):101-4. PubMed ID: 6636106
    [Abstract] [Full Text] [Related]

  • 14. 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 Jun; 153():101-10. PubMed ID: 7164890
    [No Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A.
    Hum Genet; 2008 Oct 30; 124(3):303. PubMed ID: 18846631
    [No Abstract] [Full Text] [Related]

  • 17. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A.
    Hum Genet; 2008 Oct 30; 124(3):303. PubMed ID: 18846632
    [No Abstract] [Full Text] [Related]

  • 18. Hereditary urea cycle diseases in Finland.
    Keskinen P, Siitonen A, Salo M.
    Acta Paediatr; 2008 Oct 30; 97(10):1412-9. PubMed ID: 18616627
    [Abstract] [Full Text] [Related]

  • 19. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.
    Campbell AG, Rosenberg LE, Snodgrass PJ, Nuzum CT.
    N Engl J Med; 1973 Jan 04; 288(1):1-6. PubMed ID: 4681895
    [No Abstract] [Full Text] [Related]

  • 20. 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 04; 16(5):419-24. PubMed ID: 8843999
    [Abstract] [Full Text] [Related]

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