These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 19373925)

  • 1. Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA.
    Yan S; Wu G
    Biopolymers; 2009; 92(5):399-404. PubMed ID: 19373925
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 11(3):202-8. PubMed ID: 9521421
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 10(3):223-32. PubMed ID: 9298823
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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; 10(5):368-75. PubMed ID: 9375852
    [TBL] [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; 26(6):500-12. PubMed ID: 16287098
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 14(22):3321-35. PubMed ID: 16219627
    [TBL] [Abstract][Full Text] [Related]  

  • 13. N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
    Parkinson-Lawrence EJ; Muller VJ; Hopwood JJ; Brooks DA
    Clin Chim Acta; 2007 Feb; 377(1-2):88-91. PubMed ID: 17027703
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 532(1):46-52. PubMed ID: 24035930
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
    Montaño AM; Sukegawa K; Kato Z; Carrozzo R; Di Natale P; Christensen E; Orii KO; Orii T; Kondo N; Tomatsu S
    J Inherit Metab Dis; 2007 Oct; 30(5):758-67. PubMed ID: 17876718
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 63(4):558-65. PubMed ID: 8826435
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
    Tomatsu S; Montaño AM; Lopez P; Trandafirescu G; Gutierrez MA; Oikawa H; Nishioka T; Vieira MB; Orii T; Noguchi A
    Mol Genet Metab; 2006; 89(1-2):139-49. PubMed ID: 16837223
    [TBL] [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; 51(6):414-9. PubMed ID: 24120057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.
    Kubaski F; Brusius-Facchin AC; Palhares HM; Balarin MA; Viapiana-Camelier M; Guidobono R; Burin MG; Giugliani R; Leistner-Segal S
    Gene; 2013 Mar; 517(1):112-5. PubMed ID: 23313879
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.