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222 related items for PubMed ID: 24411403

  • 1. 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]

  • 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. 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]

  • 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 05; 20(6):477-8. PubMed ID: 12442278
    [Abstract] [Full Text] [Related]

  • 5. 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 05; 26(6):500-12. PubMed ID: 16287098
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.
    Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.
    Diagn Pathol; 2011 Jan 20; 6():11. PubMed ID: 21251309
    [Abstract] [Full Text] [Related]

  • 9. [Morquio A disease: clinical and molecular study of Tunisian patients].
    Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.
    Ann Biol Clin (Paris); 2011 Jan 20; 69(4):425-9. PubMed ID: 21896407
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 22(3):652-4. PubMed ID: 8001980
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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 28; 24(2):187-8. PubMed ID: 15241807
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 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 17; 60(3):190-2. PubMed ID: 22078177
    [Abstract] [Full Text] [Related]

  • 16. 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 17; 11(3):202-8. PubMed ID: 9521421
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 22; 90(3):1049-53. PubMed ID: 1522213
    [Abstract] [Full Text] [Related]

  • 19. [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 22; 51(6):414-9. PubMed ID: 24120057
    [Abstract] [Full Text] [Related]

  • 20. Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
    Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A.
    Mol Genet Metab; 2012 Mar 22; 105(3):438-42. PubMed ID: 22178352
    [Abstract] [Full Text] [Related]

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