Skip to main content
Log in

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Gibberd FB, Page NGR, Billimoria JD, Retas S (1979) Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange.Lancet,1: 575–578.

    Article  PubMed  CAS  Google Scholar 

  • Hoefler G, Hoefler S, Watkins PA et al (1988) Biochemical abnormalities in rhizomelic chondrodysplasia punctata.J Pediatr 112: 726–733.

    Article  PubMed  CAS  Google Scholar 

  • Pike MG, Applegarth DA, Dunn HG et al (1990) Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.J Pediatr 116: 88–94.

    Article  PubMed  CAS  Google Scholar 

  • Poll-The BT, Maroteaux P, Narcy C et al (1991) A new type of chondrodysplasia punctata associated with peroxisomal dysfuntion.J Inher Metab Dis 14: 361–363.

    Article  PubMed  CAS  Google Scholar 

  • Robertson EF, Poulos A, Sharp P et al (1988) Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.Eur J Pediatr 147: 133–142.

    Article  PubMed  CAS  Google Scholar 

  • Roels F, Espeel M, De Craemer D (1991) Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.J Inher Metab Dis 14: 853–875.

    Article  PubMed  CAS  Google Scholar 

  • Schutgens RBH, Heymans HSA, Wandeers RJA et al (1988) Multiple peroxisomal enzyme deficiencies in rhizomelic chondrodysplasia punctata.Adv Clin Enzymol 6: 57–65.

    Google Scholar 

  • ten Brink HJ, Wanders RJA, Stellaard F, Schutgens RBH, Jacobs C (1991) Pristamic acid and phytanic in plasma from patients with a single peroxisomal enzyme deficiency.J Inher Metab Dis 14: 345–348.

    Article  PubMed  Google Scholar 

  • Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM (1988) Peroxisomal disorders in neurology.J Neurol Sci 88: 1–39.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Smeitink, J.A.M., Beemer, F.A., Espeel, M. et al. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis. J Inherit Metab Dis 15, 377–380 (1992). https://doi.org/10.1007/BF02435981

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02435981

Keywords

Navigation