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Journal Abstract Search

151 related items for PubMed ID: 9385378

  • 1. A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
    Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N.
    Hum Genet; 1997 Nov; 101(1):97-101. PubMed ID: 9385378
    [Abstract] [Full Text] [Related]

  • 2. [Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
    Ye J, Lei HL, Zhang HW, Qiu WJ, Han LS, Wang Y, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):414-9. PubMed ID: 24120057
    [Abstract] [Full Text] [Related]

  • 3. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
    Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T.
    Hum Mutat; 1998 Jun; 11(3):202-8. PubMed ID: 9521421
    [Abstract] [Full Text] [Related]

  • 4. Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K.
    Am J Hum Genet; 1995 Sep; 57(3):556-63. PubMed ID: 7668283
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 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 28; 26(6):500-12. PubMed ID: 16287098
    [Abstract] [Full Text] [Related]

  • 8. Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
    Chkioua L, Khedhiri S, Hafsi H, Grissa O, Ben Turkia H, Miled A, Laradi S, Froissart R, Alif N.
    Diagn Pathol; 2016 Jun 17; 11(1):51. PubMed ID: 27317439
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 10; 24(2):187-8. PubMed ID: 15241807
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 87(3):213-8. PubMed ID: 16378744
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 Feb 05; 10(5):368-75. PubMed ID: 9375852
    [Abstract] [Full Text] [Related]

  • 14. Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
    Sukegawa K, Nakamura H, Kato Z, Tomatsu S, Montaño AM, Fukao T, Toietta G, Tortora P, Orii T, Kondo N.
    Hum Mol Genet; 2000 May 22; 9(9):1283-90. PubMed ID: 10814710
    [Abstract] [Full Text] [Related]

  • 15. GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
    Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM.
    Am J Med Genet A; 2014 Nov 22; 164A(11):2793-801. PubMed ID: 25252036
    [Abstract] [Full Text] [Related]

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  • 17. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
    Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N.
    Mol Genet Metab; 2014 Jun 22; 112(2):160-70. PubMed ID: 24726177
    [Abstract] [Full Text] [Related]

  • 18. Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
    Wang Z, Zhang W, Wang Y, Meng Y, Su L, Shi H, Huang S.
    J Hum Genet; 2010 Aug 22; 55(8):534-40. PubMed ID: 20574428
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
    Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S.
    Mol Genet Metab; 2013 Oct 23; 110(1-2):54-64. PubMed ID: 23665161
    [Abstract] [Full Text] [Related]

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