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Journal Abstract Search

323 related items for PubMed ID: 18846632

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

  • 2. 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
    [No Abstract] [Full Text] [Related]

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

  • 4. 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
    [No Abstract] [Full Text] [Related]

  • 5. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M.
    Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846669
    [No Abstract] [Full Text] [Related]

  • 6. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
    Naylor SL, Klebe RJ, Shows TB.
    Proc Natl Acad Sci U S A; 1978 Dec; 75(12):6159-62. PubMed ID: 282632
    [Abstract] [Full Text] [Related]

  • 7. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
    Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J.
    Hum Mutat; 2014 Jan; 35(1):27-35. PubMed ID: 24166829
    [Abstract] [Full Text] [Related]

  • 8. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M, Nunes V.
    Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846668
    [No Abstract] [Full Text] [Related]

  • 9. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
    Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG.
    Hum Genet; 2002 Oct; 111(4-5):350-9. PubMed ID: 12384776
    [Abstract] [Full Text] [Related]

  • 10. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
    Hu L, Pandey AV, Balmer C, Eggimann S, Rüfenacht V, Nuoffer JM, Häberle J.
    J Inherit Metab Dis; 2015 Sep; 38(5):815-27. PubMed ID: 25778938
    [Abstract] [Full Text] [Related]

  • 11. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
    Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB.
    Hum Mutat; 2007 Jul; 28(7):694-702. PubMed ID: 17326097
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): experience with four independent CDT analysis methods--misleading results given by the %CDT TIA assay.
    Arndt T, Gressner A, Herwig J, Meier U, Sewell AC.
    Clin Chim Acta; 2006 Nov; 373(1-2):117-20. PubMed ID: 16808909
    [Abstract] [Full Text] [Related]

  • 15. A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
    Tanaka T, Nagao M, Mori T, Tsutsumi H.
    Tohoku J Exp Med; 2002 Oct; 198(2):119-24. PubMed ID: 12512996
    [Abstract] [Full Text] [Related]

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

  • 17. LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants.
    Alsmadi O, Alkayal F, Al-Sayed M, Rashed MS, Imtiaz F, Meyer BF.
    Clin Chem; 2006 Jul; 52(7):1439-40. PubMed ID: 16798975
    [No Abstract] [Full Text] [Related]

  • 18. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
    van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE.
    Mol Genet Metab; 2006 Nov; 89(3):274-6. PubMed ID: 16580861
    [Abstract] [Full Text] [Related]

  • 19. [Argininosuccinic aciduria].
    Kobayashi K, Tatsuno M, Matuo S, Saheki T.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):510-3. PubMed ID: 3270856
    [No Abstract] [Full Text] [Related]

  • 20. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
    Erez A, Nagamani SC, Lee B.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):45-53. PubMed ID: 21312326
    [Abstract] [Full Text] [Related]

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