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Presentation of the Data of the Italian Registry for Oculocutaneous Tyrosinaemia

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Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia

Abstract

Hereditary type II tyrosinaemia (McKusick 27660) is an autosomal recessive disorder characterized by hypertyrosinaemia and tyrosyluria, without signs of hepatic and renal damage. The patients have a dendritic keratopathy, painful hyperkeratosis of the palms and soles and sometimes mental retardation. Hypertyrosinaemia with values ranging from 14 to 62mgdl−1, tyrosinuria and tyrosyluria are found. A defect of hepatic tyrosine aminotransferase (EC 2.6.1.5) in the cytosol is considered to be the molecular abnormality (Kennaway and Buist, 1971; Goldsmith et al., 1979).

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References

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Authors and Affiliations

  1. Institute of Clinical Paediatrics, University of Siena, Via P. A. Mattioli 10, Siena, Italy

    A. Fois, P. Borgogni, M. Cioni & M. Molinelli

  2. Institute of Ophthalmological Sciences, University of Siena, Italy

    R. Frezzotti, A. M. Bardelli, G. Lasorella & L. Barberi

  3. Department of Paediatrics 3, G. Gaslini Institute, Genoa, Italy

    P. Durand & M. Di Rocco

  4. Institute of Clinical Paediatrics, University of Genoa, Italy

    C. Romano

  5. Institute of Clinical Paediatrics 2, University of Milan, Italy

    R. Parini

  6. Department of Clinical Research, University of Milan, Italy

    C. Corbetta

  7. Institute of Clinical Paediatrics 5, University of Milan, Italy

    M. Giovannini & E. Riva

  8. Institute of Clinical Dermatology, University of Naples, Italy

    N. Balato

  9. Institute of Clinical Paediatrics, University of Naples, Italy

    R. Sartorio

  10. Institute of Clinical Paediatrics, University of Catania, Italy

    F. Mollica

  11. Institute of Clinical Paediatrics, University of Florence, Italy

    E. Zammarchi & M. L. Battini

Authors
  1. A. Fois
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  2. P. Borgogni
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  3. M. Cioni
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  4. M. Molinelli
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  5. R. Frezzotti
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  6. A. M. Bardelli
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  7. G. Lasorella
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  8. L. Barberi
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  9. P. Durand
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  10. M. Di Rocco
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  11. C. Romano
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  12. R. Parini
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  13. C. Corbetta
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  14. M. Giovannini
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  15. E. Riva
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  16. N. Balato
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  17. R. Sartorio
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  18. F. Mollica
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  19. E. Zammarchi
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  20. M. L. Battini
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Editor information

G. M. Addison R. A. Harkness D. M. Isherwood R. J. Pollitt

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© 1986 SSIEM and MTP Press Limited

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Fois, A. et al. (1986). Presentation of the Data of the Italian Registry for Oculocutaneous Tyrosinaemia. In: Addison, G.M., Harkness, R.A., Isherwood, D.M., Pollitt, R.J. (eds) Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-4131-1_42

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  • DOI: https://doi.org/10.1007/978-94-009-4131-1_42

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-8332-4

  • Online ISBN: 978-94-009-4131-1

  • eBook Packages: Springer Book Archive

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