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Tyrosinaemia type I with normal levels of plasma tyrosine

✍ Scribed by I. Tavares de Almeida; P. P. Leandro; M. F. B. Silva; C. Silveira; A. Da Silva; J. Salazar de Sousa; M. Duran

Publisher
Springer
Year
1990
Tongue
English
Weight
248 KB
Volume
13
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES

A CASE OF TYROSINAEMIA TYPE I WITH NORMA
A CASE OF TYROSINAEMIA TYPE I WITH NORMAL LEVEL OF SUCCINYLACETONE IN THE AMNIOTIC FLUID
✍ 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

Genotyping of a case of tyrosinaemia typ
Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid
✍ Jacques Poudrier; Francine Lettre; Maryse St-Louis; Robert M. Tanguay πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 161 KB πŸ‘ 1 views

Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal leve