Journal of Inherited Metabolic Disease

, Volume 12, Supplement 2, pp 283–285 | Cite as

First Trimester Prenatal Diagnosis of 3-Hydroxy-3-Methylglutaric Aciduria

  • R. A. Chalmers
  • J. Mistry
  • R. Penketh
  • I. R. McFadyen
Short Communication

Keywords

Prenatal Diagnosis Chorionic Villus Dizygotic Twin POPOP Chorionic Villus Biopsy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Chalmers, R. A., Tracey, B. M., Mistry, J., Stacey, T. E., McFadyen, I. R. and Madigan, M. J. The prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and on chorionic villi. Pediatr. Res. 19 (1985) 1075CrossRefGoogle Scholar
  2. Greene, C. L., Cann, H. M., Robinson, B. M., Gibson, K. M., Sweetman, L., Holm, J. and Nyhan, W. L. 3-Hydroxy-3-methylglutaric aciduria. J. Neurogenet. 1 (1984) 165–173PubMedCrossRefGoogle Scholar
  3. Stacey, T. E., de Sousa, C., Tracey, B. M., Whitelaw, A., Mistry, J., Timbrell, P. and Chalmers, R. A. Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management. Eur. J. Pediatr. 144 (1985) 177–181PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer Netherlands 1989

Authors and Affiliations

  • R. A. Chalmers
    • 1
  • J. Mistry
    • 1
  • R. Penketh
    • 1
  • I. R. McFadyen
    • 1
  1. 1.Perinatal and Child HealthMRC Clinical Research CentreHarrowUK

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