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Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I

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Journal of Inherited Metabolic Disease

Summary

We report the case of a child who developed severe obstructive hypertrophic cardiomyopathy revealing hereditary tyrosinaemia type I, who was successfully treated with NTBC. The mechanisms underlying the association are discussed.

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Authors and Affiliations

  1. Multidisciplinary Pediatric Department, Children’s Hospital of ‘La Timone’, Boulevard Jean Moulin, 13885, Marseille Cedex 5, France

    N. André, B. Roquelaure & V. Jubin

  2. Pediatric Oncology Department, Children’s Hospital of ‘La Timone’, Marseille, France

    N. André

  3. Pediatric Cardiology Department, Children’s Hospital of ‘La Timone’, Marseille, France

    C. Ovaert

Authors
  1. N. André
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  2. B. Roquelaure
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  3. V. Jubin
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  4. C. Ovaert
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Correspondence to N. André.

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André, N., Roquelaure, B., Jubin, V. et al. Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I. J Inherit Metab Dis 28, 103–106 (2005). https://doi.org/10.1007/s10545-005-5085-4

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  • DOI: https://doi.org/10.1007/s10545-005-5085-4

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