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Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation

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Journal of Inherited Metabolic Disease

Abstract

Summary: We present a patient with MPS IH, homozygous for the W402X mutation. The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination.

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REFERENCES

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Authors and Affiliations

  1. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, M27 4HA, UK

    C. J. Hendriksz, G. M. Moss & J. E. Wraith

Authors
  1. C. J. Hendriksz
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  2. G. M. Moss
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  3. J. E. Wraith
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Hendriksz, C.J., Moss, G.M. & Wraith, J.E. Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation. J Inherit Metab Dis 27, 685–686 (2004). https://doi.org/10.1023/B:BOLI.0000043014.21530.9f

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  • DOI: https://doi.org/10.1023/B:BOLI.0000043014.21530.9f

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