title: Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
abstract: Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a healthy child in the same family.
authors.affiliation: Department of Clinical Genetics, Tampere University Hospital, Finland.
authors.forename: A
authors.initials: A
authors.lastname: Mustonen
authors.forename: H K
authors.initials: HK
authors.lastname: Ploos van Amstel
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: M K
authors.initials: MK
authors.lastname: Salo
authors.forename: L
authors.initials: L
authors.lastname: Viinikka
authors.forename: K O
authors.initials: KO
authors.lastname: Simola
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D015193:Chorionic Villi Sampling; D006579:Heterozygote; D006801:Humans; D006867:Hydrolases / Q000235:genetics; D007223:Infant; D017093:Liver Failure / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014443:Tyrosine / Q000097:blood*
chemical_list: D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase