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Human Genetics

, Volume 28, Issue 2, pp 167–171 | Cite as

Hypersarcosinemia with craniostenosis-syndactylism syndrome

  • R. Minami
  • K. Olek
  • P. Wardenbach
Short Communications

Summary

Case: Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.

Keywords

Strabismus Inborn Error Isatin Sarcosine Severe Mental Retardation 
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. Gerritsen, T., Waisman, H. A.: Hypersarcosinemia: An inborn error of metabolism. New Engl. J. Med.275, 66–69 (1966)PubMedCrossRefGoogle Scholar
  2. Gerritsen, T., Waisman, H. A.: Hypersarcosinemia. In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wynngaarden, and D. S. Fredrikson) 3rd ed., pp. 459–463. New York: McGraw-Hill 1972Google Scholar
  3. Gerritsen, T.: Sarcosine dehydrogenase deficiency, the enzyme defect in hypersarcosinemia. Helv. paediat. Acta27, 33–37 (1972)Google Scholar
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  7. Spranger, J. W., Langer, L. O., Wiedemann, H. R.: Bone dysplasias, pp. 261–266. Stuttgart: G. Fischer 1974Google Scholar

Copyright information

© Springer-Verlag 1975

Authors and Affiliations

  • R. Minami
    • 1
  • K. Olek
    • 1
  • P. Wardenbach
    • 1
  1. 1.Institut für HumangenetikUniversity of BonnBonnGermany

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