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Journal Abstract Search

184 related items for PubMed ID: 9290256

  • 1. 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; 42(2):317-22. PubMed ID: 9290256
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
    Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y.
    J Clin Invest; 1992 Sep; 90(3):1049-53. PubMed ID: 1522213
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T.
    Hum Mutat; 1997 Aug; 10(5):368-75. PubMed ID: 9375852
    [Abstract] [Full Text] [Related]

  • 7. 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; 26(6):500-12. PubMed ID: 16287098
    [Abstract] [Full Text] [Related]

  • 8. Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
    Khedhiri S, Chkioua L, Elcioglu N, Laradi S, Miled A.
    Pathol Biol (Paris); 2014 Feb; 62(1):38-40. PubMed ID: 24411403
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Molecular genetic assay of mucopolysaccharidosis IVA in South China.
    He D, Huang Y, Ou Z, Sheng H, Li S, Zhao X, Li R, Zheng J, Liu L.
    Gene; 2013 Dec 10; 532(1):46-52. PubMed ID: 24035930
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 22(3):652-4. PubMed ID: 8001980
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 91(3):251-8. PubMed ID: 17498992
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 23; 68(1):78-85. PubMed ID: 10479485
    [Abstract] [Full Text] [Related]

  • 15. Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.
    Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ferchichi S, Ben Turkia H, Miled A, Laradi S.
    Pathol Biol (Paris); 2012 Jun 23; 60(3):190-2. PubMed ID: 22078177
    [Abstract] [Full Text] [Related]

  • 16. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
    Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A.
    Hum Mutat; 1997 Jun 23; 10(3):223-32. PubMed ID: 9298823
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. 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]

  • 20. 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 Dec 15; 7(2):123-34. PubMed ID: 8829629
    [Abstract] [Full Text] [Related]

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