Journal of Inherited Metabolic Disease

, Volume 10, Supplement 2, pp 229–232 | Cite as

Prenatal diagnosis and confirmation of Infantile Refsum's disease

  • B. T. Poll-The
  • J. M. Saudubray
  • F. Rocchiccioli
  • J. Scotto
  • F. Roels
  • J. Boue
  • H. Ogier
  • Y. Dumez
  • R. J. A. Wanders
  • R. B. H. Schutgens
  • A. W. Schram
  • J. M. Tager
Short Communication

Keywords

Public Health Internal Medicine Metabolic Disease Prenatal Diagnosis 

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References

  1. Aubourg, P., Bougnères, P. F. and Rocchiccioli, F. Capillary gas chromatographic mass spectrometic measurement of very long chain (C22 to C26) fatty acids in microliter plasma samples.J. Lipid Res. 26 (1985) 263–267PubMedGoogle Scholar
  2. Poll-The, B. T., Poulos, A., Sharp, P., Boue, J., Ogier, H. Odièvre, M. and Saudubray, J. M. Antenatal diagnosis of infantile Refsum's disease.Clin. Genet. 27 (1985) 524–526PubMedGoogle Scholar
  3. Poll-The, B. T., Saudubray, J. M., Ogier, H., Schutgens, R. B. H., Wanders, R. J. A., Schrakamp, G., van den Bosch, H., Trijbels, J. M. F., Poulos, A., Moser, H. W., van Eldere, J. and Eyssen, H. J. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.J. Inher. Metab. Dis. 9 (1986) 169–174Google Scholar
  4. Roels, F. and Goldfischer, S. Cytochemistry of human catalase. The demonstration of hepatic and renal peroxisomes by a high temperature procedure.J. Histochem. Cytochem. 27 (1979) 1471–1477PubMedGoogle Scholar
  5. Schrakamp, G., Schutgens, R. B. H., Wanders, R. J. A., Heymans, H. S. A., Tager, J. M. and van den Bosch, H. The cerebro-hepato-renal (Zellweger) syndrome. Impairedde novo biosynthesis of plasmalogens in cultured skin fibroblasts.Biochim. Biophys. Acta 833 (1985) 170–174PubMedGoogle Scholar
  6. Schutgens, R. B. H., Romeyn, G. J., Wanders, R. J. A., van den Bosch, H., Schrakamp, G. and Heymans, H. S. A. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.Biochem. Biophys. Res. Commun. 120 (1984) 179–184PubMedGoogle Scholar
  7. Tager, J. M., Ten Harmsen van der Beek, W. A., Wanders, R. J. A., Hashimoto, T., Heymans, H. S. A., van den Bosch, H., Schutgens, R. B. H. and Schram, A. W. Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome.Biochem. Biophys. Res. Commun. 126 (1985) 1269–1275PubMedGoogle Scholar
  8. Wanders, R. J. A., Kos, M., Roest, B., Meyer, A. J., Schrakamp, G., Heymans, H. S. A., Tegelaers, W. H. H., van den Bosch, H., Schutgens, R. B. H. and Tager, J. M. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.Biochem. Biophys. Res. Commun. 123 (1984) 1054–1061PubMedGoogle Scholar

Copyright information

© SSIEM and MTP Press Limited 1987

Authors and Affiliations

  • B. T. Poll-The
    • 1
  • J. M. Saudubray
    • 1
  • F. Rocchiccioli
    • 1
  • J. Scotto
    • 2
  • F. Roels
    • 3
  • J. Boue
    • 4
  • H. Ogier
    • 1
  • Y. Dumez
    • 5
  • R. J. A. Wanders
    • 6
  • R. B. H. Schutgens
    • 6
  • A. W. Schram
    • 7
  • J. M. Tager
    • 7
  1. 1.Hôpital Necker — Enfants Malades (INSERM U12 and U75)ParisFrance
  2. 2.Hôpital Bicêtre (INSERM U56)ParisFrance
  3. 3.Human AnatomyVrije Universiteit BrusselBrusselsBelgium
  4. 4.Unité de Recherche de Biologie Prénatale (INSERM U73)ParisFrance
  5. 5.Hôpital Port-RoyalParisFrance
  6. 6.Department of PediatricsUniversity of AmsterdamAmsterdamThe Netherlands
  7. 7.Laboratory of BiochemistryUniversity of AmsterdamAmsterdamThe Netherlands

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