• Home
  • Patients & Caregivers
  • Healthcare Professionals
  • References
  • Glossary
  • Press Releases and Presentations

Recent Publications

  1. Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase.
    Alméciga-Díaz CJ, Rueda-Paramo MA, Espejo AJ, Echeverri OY, Montaño A, Tomatsu S, Barrera LA.
    Mol Biol Rep. 2009 Sep;36(7).
  2. Sleep-related breathing in children with mucopolysaccharidosis
    A. Nashed, S. Al-Saleh, J. Gibbons, I. MacLusky, J. MacFarlane, A. Riekstins, J. Clarke and I. Narang
    Journal of Inherited Metabolic Disease, Volume 32, Number 4 / August, 2009
  3. 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. Epub 2009 Mar 28.
  4. 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;57(5):392-7. Epub 2008 Jun 26.
  5. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004.
    Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ, Tsai LP, Hwu WL, Lin JL.
    Am J Med Genet A. 2009 May;149A(5):960-4
  6. Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.
    Beesley CE, Young EP, Finnegan N, Jackson M, Mills K, Vellodi A, Cleary M, Winchester BG.
    Mol Genet Metab. 2009 Apr;96(4):218-24. Epub 2009 Jan 18.
  7. Pseudotumor cerebri in Morquio type IV syndrome.
    Chan JW.
    J Child Neurol. 2009 Apr;24(4):514-5. No abstract available.
  8. Perioperative Implications of Morquio Syndrome in a 31-Year-Old Woman Undergoing Aortic Valve Replacement.
    Pagel PS, Almassi GH.
    J Cardiothorac Vasc Anesth. 2009 Feb 6. [Epub ahead of print. No abstract available.]
  9. Cervical stenosis and spastic quadriparesis in morquio disease (MPS IV). A case report with twenty-six-year follow-up.
    White KK, Steinman S, Mubarak SJ.
    J Bone Joint Surg Am. 2009 Feb;91(2):438-42.
  10. Possible case of Morquio syndrome in the pottery of Tumaco-Tolita culture
    Pachajoa H, Rodríguez CA, Isaza C.
    Rev Neurol. 2009 Jan 1-15;48(1):52. [Spanish]
  11. Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report.
    Al Kaissi A, Klaushofer K, Grill F.
    Cases J. 2008 Dec 22;1(1):410.
  12. Total knee replacements in a patient with the Morquio syndrome.
    Atinga M, Hamer AJ.
    J Bone Joint Surg Br. 2008 Dec;90(12):1631-3.
  13. GALNS gene expression profiling in Morquio A patients' fibroblasts.
    Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, Orlando C, Zammarchi E, Guerrini R, Donati MA, Morrone A.
    Clin Chim Acta. 2008 Nov;397(1-2):72-6. Epub 2008 Jul 25.
  14. Preimplantation genetic diagnosis of Morquio disease.
    Qubbaj W, Al-Aqeel AI, Al-Hassnan Z, Al-Duraihim A, Awartani K, Al-Rejjal R, Coskun S.
    Prenat Diagn. 2008 Oct;28(10):900-3.
  15. Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease
    Gutiérrez MA, García-Vallejo F, Tomatsu S, Cerón F, Alméciga-Díaz CJ, Domínguez MC, Barrera LA.
    Biomedica. 2008 Sep;28(3):448-59. [Spanish]
  16. Bilateral total hip arthroplasty in Morquio-Brailsford's syndrome: a report of two cases.
    Tassinari E, Boriani L, Traina F, Dallari D, Toni A, Giunti A.
    Chir Organi Mov. 2008 Sep;92(2):123-6. Epub 2008 May 16.
  17. Morquio A syndrome: diagnosis in an adult
    Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B.
    Joint Bone Spine. 2008 Jul;75(4):495-8. Epub 2008 May 5.
  18. Enzyme replacement therapy in a murine model of Morquio A syndrome
    Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS.
    Hum Mol Genet. 2008 Mar 15;17(6):815-24. Epub 2007 Dec 3.
  19. Aortic valve replacement in a patient with morquio syndrome.
    Nicolini F, Corradi D, Bosio S, Gherli T.
    Heart Surg Forum. 2008;11(2):E96-8.
  20. Visual test for detection of pathological glysocaminoglycans excretion in mucopolysaccharidosis. A diagnostic tool in pediatric rheumatology.
    MJ Rua, L Rodriguez, F Andrade, JA Prieto, M Montejo, P Sanjurjo and L Aldamiz-echevarria
    Pediatric Rheumatology. 2008, 6(Suppl 1):P157doi:10.1186/1546-0096-6-S1-P157.