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123 related items for PubMed ID: 19394256

  • 1. Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.
    Bank RA, Groener JE, van Gemund JJ, Maaswinkel PD, Hoeben KA, Schut HA, Everts V.
    Mol Genet Metab; 2009 Jul; 97(3):196-201. PubMed ID: 19394256
    [Abstract] [Full Text] [Related]

  • 2. A molecular and histological characterization of cartilage from patients with Morquio syndrome.
    De Franceschi L, Roseti L, Desando G, Facchini A, Grigolo B.
    Osteoarthritis Cartilage; 2007 Nov; 15(11):1311-7. PubMed ID: 17548214
    [Abstract] [Full Text] [Related]

  • 3. Galactose 6-sulfate sulfatase activity in Morquio syndrome.
    Yutaka T, Okada S, Kato T, Inui K, Yabuuhi H.
    Clin Chim Acta; 1982 Jul 01; 122(2):169-80. PubMed ID: 6809361
    [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 01; 20(6):477-8. PubMed ID: 12442278
    [Abstract] [Full Text] [Related]

  • 5. Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
    Glössl J, Kresse H, Mendla K, Cantz M, Rosenkranz W.
    Pediatr Res; 1984 Mar 01; 18(3):302-5. PubMed ID: 6427747
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice.
    Dvorak-Ewell M, Wendt D, Hague C, Christianson T, Koppaka V, Crippen D, Kakkis E, Vellard M.
    PLoS One; 2010 Aug 16; 5(8):e12194. PubMed ID: 20808938
    [Abstract] [Full Text] [Related]

  • 8. 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 16; 22(3):652-4. PubMed ID: 8001980
    [Abstract] [Full Text] [Related]

  • 9. Activities of N-acetylgalactosamine-6-sulfate sulfatase in liver from two sisters with morquio syndrome.
    Minami R, Abo K, Kudoh T, Tsugawa S, Oyanagi K, Nakao T.
    Tohoku J Exp Med; 1980 May 16; 131(1):53-7. PubMed ID: 6773185
    [Abstract] [Full Text] [Related]

  • 10. Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
    Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, Sánchez X, Muñoz S, Marcó S, Pérez J, Elias G, León X, Roca C, Jimenez V, Otaegui P, Mulero F, Navarro M, Ruberte J, Bosch F.
    Nat Commun; 2021 Sep 09; 12(1):5343. PubMed ID: 34504088
    [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 09; 87(3):213-8. PubMed ID: 16378744
    [Abstract] [Full Text] [Related]

  • 12. The Morquio syndrome: neuropathology and biochemistry.
    Koto A, Horwitz AL, Suzuki K, Tiffany CW, Suzuki K.
    Ann Neurol; 1978 Jul 09; 4(1):26-36. PubMed ID: 100045
    [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 09; 377(1-2):88-91. PubMed ID: 17027703
    [Abstract] [Full Text] [Related]

  • 14. The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies.
    Hollister DW, Cohen AH, Rimoin DL, Silberberg R.
    Johns Hopkins Med J; 1975 Oct 09; 137(4):176-83. PubMed ID: 810613
    [Abstract] [Full Text] [Related]

  • 15. Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
    Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S.
    Pathol Biol (Paris); 2009 Jul 09; 57(5):392-7. PubMed ID: 18584975
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing.
    Bank RA, Tekoppele JM, Janus GJ, Wassen MH, Pruijs HE, Van der Sluijs HA, Sakkers RJ.
    J Bone Miner Res; 2000 Jul 15; 15(7):1330-6. PubMed ID: 10893681
    [Abstract] [Full Text] [Related]

  • 18. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
    Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA.
    FEBS J; 2010 Sep 15; 277(17):3608-19. PubMed ID: 20716181
    [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. Voice alterations in patients with Morquio A syndrome.
    Szklanny K, Gubrynowicz R, Tylki-Szymańska A.
    J Appl Genet; 2018 Feb 15; 59(1):73-80. PubMed ID: 29275451
    [Abstract] [Full Text] [Related]

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