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Journal Abstract Search

316 related items for PubMed ID: 10479485

  • 1. Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
    Wang L, Ou X, Sebesta I, Vondrak K, Krijt J, Elleder M, Poupetova H, Ledvinova J, Zeman J, Simmonds HA, Tischfield JA, Sahota A.
    Mol Genet Metab; 1999 Sep; 68(1):78-85. PubMed ID: 10479485
    [Abstract] [Full Text] [Related]

  • 2. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
    Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T.
    Hum Mutat; 1996 Sep; 7(2):123-34. PubMed ID: 8829629
    [Abstract] [Full Text] [Related]

  • 3. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
    Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS.
    Genomics; 1994 Aug; 22(3):652-4. PubMed ID: 8001980
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
    Terzioglu M, Tokatli A, Coskun T, Emre S.
    Hum Mutat; 2002 Dec; 20(6):477-8. PubMed ID: 12442278
    [Abstract] [Full Text] [Related]

  • 5. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.
    Mol Genet Metab; 2006 Mar; 87(3):213-8. PubMed ID: 16378744
    [Abstract] [Full Text] [Related]

  • 6. Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
    Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montaño AM, Yamaguchi S, Kondo N, Orii T, Noguchi A.
    Hum Mutat; 2004 Aug; 24(2):187-8. PubMed ID: 15241807
    [Abstract] [Full Text] [Related]

  • 7. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
    Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS.
    Hum Mol Genet; 2003 Dec 15; 12(24):3349-58. PubMed ID: 14583446
    [Abstract] [Full Text] [Related]

  • 8. Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
    Masuno M, Tomatsu S, Nakashima Y, Hori T, Fukuda S, Masue M, Sukegawa K, Orii T.
    Genomics; 1993 Jun 15; 16(3):777-8. PubMed ID: 8325655
    [Abstract] [Full Text] [Related]

  • 9. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
    Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L.
    Hum Mol Genet; 2005 Nov 15; 14(22):3321-35. PubMed ID: 16219627
    [Abstract] [Full Text] [Related]

  • 10. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
    Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T.
    Hum Mutat; 2005 Dec 15; 26(6):500-12. PubMed ID: 16287098
    [Abstract] [Full Text] [Related]

  • 11. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
    Tomatsu S, Vogler C, Montaño AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS.
    Mol Genet Metab; 2007 Jul 15; 91(3):251-8. PubMed ID: 17498992
    [Abstract] [Full Text] [Related]

  • 12. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
    Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T.
    Genomics; 1994 Mar 01; 20(1):99-104. PubMed ID: 8020961
    [Abstract] [Full Text] [Related]

  • 13. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
    Fateen EM, El Mawgoud HA, Eissa NR, Ibrahim MM, Aglan MS, Essawi ML.
    Gene; 2017 Feb 05; 600():48-54. PubMed ID: 27825773
    [Abstract] [Full Text] [Related]

  • 14. [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].
    Bouzidi H, Khedhiri S, Laradi S, Ferchichi S, Daudon M, Miled A.
    Ann Biol Clin (Paris); 2007 Feb 05; 65(1):5-11. PubMed ID: 17264033
    [Abstract] [Full Text] [Related]

  • 15. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T.
    Am J Med Genet; 1996 Jun 28; 63(4):558-65. PubMed ID: 8826435
    [Abstract] [Full Text] [Related]

  • 16. Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.
    Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montaño AM, Hopwood JJ, Muller V, Orii T, Kondo N.
    Jpn J Hum Genet; 1997 Jun 28; 42(2):317-22. PubMed ID: 9290256
    [Abstract] [Full Text] [Related]

  • 17. The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.
    Montaño AM, Yamagishi A, Tomatsu S, Fukuda S, Copeland NG, Orii KE, Isogai K, Yamada N, Kato ZI, Jenkins NA, Gilbert DJ, Sukegawa K, Orii T, Kondo N.
    Biochim Biophys Acta; 2000 Mar 17; 1500(3):323-34. PubMed ID: 10699374
    [Abstract] [Full Text] [Related]

  • 18. Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.
    Di Pietro V, Perruzza I, Amorini AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B, Tavazzi B.
    Clin Biochem; 2007 Jan 17; 40(1-2):73-80. PubMed ID: 17126311
    [Abstract] [Full Text] [Related]

  • 19. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
    Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA.
    FEBS J; 2010 Sep 17; 277(17):3608-19. PubMed ID: 20716181
    [Abstract] [Full Text] [Related]

  • 20. Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
    Seyedhassani SM, Hashemi-Gorji F, Yavari M, Mirfakhraie R.
    Clin Chim Acta; 2015 Oct 23; 450():121-4. PubMed ID: 26276046
    [Abstract] [Full Text] [Related]

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