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Two successful pregnancies in pyridoxine-nonresponsive homocystinuria

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: Two successful pregnancies are reported in a pyridoxine-nonresponsive woman who was also homozygous for the MTHFR 677C>T polymorphism. Two healthy children were delivered, although there had also been an early miscarriage of an apparently normal fetus in another pregnancy. Management of the patient's homocystine and methionine levels was maintained throughout pregnancy and, in view of the increased thromoboembolic risk, anticoagulation therapy was also included in the management.

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REFERENCES

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Authors and Affiliations

  1. Hospital Universitari Sant Joan de Déu, Barcelona, Spain

    M. A. Vilaseca & N. Lambruschini

  2. Hospital San Millán, Logroño, Spain

    M. L. Cuartero & M. Martinez de Salinas

  3. Hospital Universitari de Bellvitge, Barcelona, Spain

    X. Pintó

  4. Departament de Genètica, Universitat de Barcelona, Spain

    R. Urreizti, S. Balcells & D. Grinberg

Authors
  1. M. A. Vilaseca
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  2. M. L. Cuartero
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  3. M. Martinez de Salinas
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  4. N. Lambruschini
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  5. X. Pintó
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  6. R. Urreizti
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  7. S. Balcells
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  8. D. Grinberg
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Corresponding author

Correspondence to M. A. Vilaseca.

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Vilaseca, M.A., Cuartero, M.L., Martinez de Salinas, M. et al. Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. J Inherit Metab Dis 27, 775–777 (2004). https://doi.org/10.1023/B:BOLI.0000045840.18383.25

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  • DOI: https://doi.org/10.1023/B:BOLI.0000045840.18383.25

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