Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia

A. Fois, P. Borgogni, M. Cioni, M. Molinelli, R. Frezzotti, A. M. Bardelli, G. Lasorella, L. Barberi, P. Durand, M. Di Rocco, C. Romano, R. Parini, C. Corbetta, M. Giovannini, E. Riva, N. Balato, R. Sartorio, F. Mollica, E. Zammarchi, M. L. Battini

Research output: Contribution to journalArticlepeer-review

Abstract

Type II tyrosinaemia in Italy has no regional preponderance. Neuromotor retardation and/or microcephaly seem to be correlated with the higher values of tyrosine. Enzyme studies have been refused in all patients. Treatment with a low tyrosine diet has been successful when accepted: since in many patients the diagnosis was made rather late, it is not possible to evaluate the results of the diet for the prevention of neuromotor retardation.

Original languageEnglish
Pages (from-to)262-264
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume9
Issue number2 Supplement
DOIs
Publication statusPublished - Jun 1986

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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