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164 related items for PubMed ID: 8325655

  • 1. 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; 16(3):777-8. PubMed ID: 8325655
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 6. The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.
    Baker E, Guo XH, Orsborn AM, Sutherland GR, Callen DF, Hopwood JJ, Morris CP.
    Am J Hum Genet; 1993 Jan 01; 52(1):96-8. PubMed ID: 8434612
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  • 7. 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 01; 20(6):477-8. PubMed ID: 12442278
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  • 8. 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
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  • 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
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  • 10. 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 15; 42(2):317-22. PubMed ID: 9290256
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  • 11. 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 15; 24(2):187-8. PubMed ID: 15241807
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  • 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 15; 91(3):251-8. PubMed ID: 17498992
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  • 13. Polymorphism in the GALNS gene.
    Tomatsu S, Fukuda S, Iwata H, Ogawa T, Sukegawa K, Orii T.
    Hum Mol Genet; 1994 Jul 15; 3(7):1208. PubMed ID: 7981704
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  • 14. 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
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  • 15. 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 17; 26(6):500-12. PubMed ID: 16287098
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  • 18. Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
    Hori T, Tomatsu S, Nakashima Y, Uchiyama A, Fukuda S, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Horiuchi T.
    Genomics; 1995 Apr 10; 26(3):535-42. PubMed ID: 7607677
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  • 19. Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA.
    Yan S, Wu G.
    Biopolymers; 2009 Apr 10; 92(5):399-404. PubMed ID: 19373925
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