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The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency

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Abbreviations

DHPD:

dihydropyrimidine dehydrogenase

References

  1. Bakkeren JAJM, De Abreu RA, Sengers RCA, Gabreels FJM, Maas JM, Renier WO (1984) Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency. Clin Chim Acta 140:247–256

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  2. Berger R, Stoker-de Vries SA, Wadman SK, Duran M, Beemer FA, Bree PK de, Weits-Binnerts JJ, Penders TJ, Van der Woude JK (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 141:227–234

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  3. Brockstedt M, Jakobs C, Smit LME, Gennip AH van, Berger R (1990) A new case of dihydropyrimidine dehydrogenase deficiency. J Inherited Metab Dis 13:121–124

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  5. Jakobs C, Brink HJ ten, Stellaard F (1990) Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future. Prenat Diagn 10:265–271

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Authors and Affiliations

  1. Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands

    C. Jakobs, F. Stellaard & L. M. E. Smit

  2. Department of Obsterics and Gynaecology, Free University Hospital, Amsterdam, The Netherlands

    J. M. G. van Vugt

  3. University Childrens Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands

    M. Duran, R. Berger & P. Rovers

Authors
  1. C. Jakobs
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  2. F. Stellaard
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  3. L. M. E. Smit
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  4. J. M. G. van Vugt
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  5. M. Duran
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  6. R. Berger
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  7. P. Rovers
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Jakobs, C., Stellaard, F., Smit, L.M.E. et al. The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency. Eur J Pediatr 150, 291 (1991). https://doi.org/10.1007/BF01955535

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  • DOI: https://doi.org/10.1007/BF01955535

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