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Tyrosinemia II

  • Y. de Prost
  • J. M. Saudubray
Conference paper

Abstract

Tyrosinemia is a hereditary disease caused by a deficiency of hepatic cytosolic aminotransferase. The main clinical signs are corneal erosions and ulcerations associated with hyperkeratosis of the palms and soles [1–3, 5]. Plasma tyrosine, urinary tyrosine, and urinary tyrosine derivatives are increased. Transmission is autosomal recessive.

Keywords

Tyrosine Aminotransferase Ocular Lesion Corneal Erosion Plasma Tyrosine Main Clinical Sign 
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

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Copyright information

© Springer-Verlag Berlin Heidelberg 1987

Authors and Affiliations

  • Y. de Prost
    • 1
  • J. M. Saudubray
    • 2
  1. 1.Hôpital Necker Enfants MaladesUnité de DermatologieParisFrance
  2. 2.Service de Génétique et métabolisme chez l’enfantHôpital Necker Enfants MaladesParisFrance

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