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Journal Abstract Search

261 related items for PubMed ID: 15691212

  • 21. The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
    Hein LK, Hopwood JJ, Clements PR, Brooks DA.
    Biochim Biophys Acta; 2003 Oct 15; 1639(2):95-103. PubMed ID: 14559116
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  • 22. [Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report].
    Dupont C, El Hachem C, Harchaoui S, Ribault V, Amiour M, Guillot M, Maire I, Froissart R, Guffon-Fouilhoux N.
    Arch Pediatr; 2008 Jan 15; 15(1):45-9. PubMed ID: 18162380
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  • 24. Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.
    Gonzalez EA, Visioli F, Pasqualim G, de Souza CFM, Marinho DR, Giugliani R, Matte U, Baldo G.
    Clin Exp Ophthalmol; 2020 Apr 15; 48(3):334-342. PubMed ID: 31925897
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  • 28. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
    Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF.
    J Pediatr; 2004 May 15; 144(5):581-8. PubMed ID: 15126990
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  • 30. [The development of cognitive functions in children with Hurler phenotype mucopolysaccharidosis type I on enzyme replacement therapy with laronidase].
    Biernacka M, Jakubowska-Winecka A, Tylki-Szymańska A.
    Pediatr Endocrinol Diabetes Metab; 2010 May 15; 16(4):249-54. PubMed ID: 21447265
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  • 31. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
    D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P.
    Eur J Pediatr; 2012 Jun 15; 171(6):911-9. PubMed ID: 22234477
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  • 32. Alpha-L-iduronidase (laronidase; aldurazyme).
    Med Lett Drugs Ther; 2003 Oct 27; 45(1168):88. PubMed ID: 14576624
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  • 34. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
    Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA.
    J Mol Biol; 2004 Apr 30; 338(3):453-62. PubMed ID: 15081804
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  • 36. Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.
    Wang RY, Aminian A, McEntee MF, Kan SH, Simonaro CM, Lamanna WC, Lawrence R, Ellinwood NM, Guerra C, Le SQ, Dickson PI, Esko JD.
    Mol Genet Metab; 2014 Aug 30; 112(4):286-93. PubMed ID: 24951454
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  • 37. Enzyme-replacement therapy in mucopolysaccharidosis I.
    Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF.
    N Engl J Med; 2001 Jan 18; 344(3):182-8. PubMed ID: 11172140
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  • 40. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.
    Johnson BA, Dajnoki A, Bodamer OA.
    Curr Protoc Hum Genet; 2015 Jan 20; 84():17.17.1-17.17.8. PubMed ID: 25599668
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