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    Baldo, Guilherme Mayer, Fabiana Q. Martinelli, Bárbara Z. de Carvalho, Talita G. Meyer, Fabiola S. de Oliveira, Patrícia G. Meurer, Luise Tavares, Ângela Matte, Ursula and Giugliani, Roberto 2013. Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. Molecular Genetics and Metabolism, Vol. 109, Issue. 1, p. 33.


    Bigg, Paul W. Sleeper, Meg M. O'Donnell, Patricia A. Liu, Yuli Wu, Susan Casal, Margret L. Haskins, Mark E. and Ponder, Katherine P. 2013. The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade. Molecular Genetics and Metabolism, Vol. 110, Issue. 3, p. 311.


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Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation

  • Naruhito Watanabe (a1), Petros V. Anagnostopoulos (a1) and Anthony Azakie (a1)
  • DOI: http://dx.doi.org/10.1017/S1047951110002015
  • Published online: 25 January 2011
Abstract
Abstract

We describe a case of severe aortic stenosis in a 16-year-old male with Hurler's syndrome who had prior bone marrow transplantation. The excised aortic valve leaflets showed characteristic pathologic findings of Hurler's syndrome. This is the first case report of aortic valve replacement in a patient with Hurler's syndrome treated with bone marrow transplantation that demonstrates progression of the aortic valve disease despite treatment.

Copyright
Corresponding author
Correspondence to: Dr A. Azakie, MD, UCSF Benioff Children's Hospital, University of California San Francisco, 513 Parnassus Avenue, San Francisco, California 94143, United States of America. Tel: 415 476 3501, Fax: 415 476 9678; E-mail: Tony.Azakie@ucsfmedctr.org
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2.D Moore , MJ Connock , E Wraith , C Lavery . The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie, and Scheie syndromes in the UK. Orphanet J Rare Dis 2008; 3: 24.

4.MA Gatzoulis , A Vellodi , AN Redington . Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. Arch Dis Child 1995; 73: 259260.

5.EA Braunlin , NR Stauffer , CH Peters , Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92: 882886.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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