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Journal of Inherited Metabolic Disease

, Volume 12, Supplement 2, pp 361–364 | Cite as

The Heterogeneity of Leber’s Congenital Amaurosis

  • J. Aikawa
  • T. Noro
  • K. Tada
  • K. Narisawa
  • T. Hashimoto
Short Communication

Keywords

Phytanic Acid Adrenoleukodystrophy Zellweger Syndrome Peroxisomal Membrane Protein Severe Hypotonia 
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. Aikawa, J., Ishizawa, S., Narisawa, K., Tada, K., Yokota, S. and Hashimoto, T. The abnormality of peroxisomal membrane proteins in Zellweger syndrome. J. Inher. Metab. Dis. 10 Suppl. 2 (1987) 211–213CrossRefGoogle Scholar
  2. Johan, E. K., Bengt, F. K., Albrecht, R., Ingeman, B. and Jan, I. P. Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): Clinical and biochemical findings similar to those observed in Zellweger syndrome. J. Pediatr. 108 (1986) 19–24CrossRefGoogle Scholar
  3. Laemmli, U. K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature (London) 227 (1970) 680–685CrossRefGoogle Scholar
  4. Towbin, H., Staehlin, T. and Gordon, J. Electrophoretic transfer of protein from polyacrylamide gels to nitrocellulose sheets. Procedure and some applications. Proc. Natl. Acad. Sci. USA 76 (1979) 4350–4354PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer Netherlands 1989

Authors and Affiliations

  • J. Aikawa
    • 1
  • T. Noro
    • 1
  • K. Tada
    • 1
  • K. Narisawa
    • 2
  • T. Hashimoto
    • 3
  1. 1.Department of PediatricsTohoku University School of MedicineSendai
  2. 2.Department of Biochemical GeneticsTohoku University School of MedicineSendai
  3. 3.Department of BiochemistryShinshu University School of MedicineMatsumotoJapan

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