Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.

Poudrier, J

Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid. [electronic resource] - Prenatal diagnosis Jan 1999 - 61-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0197-3851

10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-# doi


Amino Acid Metabolism, Inborn Errors--diagnosis
Amniotic Fluid--chemistry
Female
Genotype
Heptanoates--analysis
Heterozygote
Humans
Hydrolases--deficiency
Mutation
Pedigree
Pregnancy
Prenatal Diagnosis
Tyrosine--blood