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Autoimmune thyroiditis in a case of tyrosinaemia type III

✍ Scribed by P. D'Eufemia; O. Giardini; A. Cantani; F. Martino; R. Finocchiaro


Publisher
Springer
Year
1992
Tongue
English
Weight
158 KB
Volume
15
Category
Article
ISSN
0141-8955

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A CASE OF TYROSINAEMIA TYPE I WITH NORMA
✍ A. GRENIER; S. CEDERBAUM; C. LABERGE; R. GAGNΓ‰; C. JAKOBS; R. M. TANGUAY πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 333 KB πŸ‘ 1 views

Prenatal diagnosis of tyrosinaemia type I can be achieved in cultured amniotic cells and in chorionic villus material by testing the activity of fumarylacetoacetate hydrolase and by DNA analysis, and in amniotic fluid by succinylacetone measurement. This specific metabolite can be measured either by