Mustonen A, Ploos van Amstel H K, Berger R, Salo M K, Viinikka L, Simola K O
Department of Clinical Genetics, Tampere University Hospital, Finland.
Prenat Diagn. 1997 Oct;17(10):964-6.
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.
1型遗传性酪氨酸血症是一种罕见但严重的代谢紊乱疾病，呈常染色体隐性遗传模式。我们描述了通过DNA突变分析对一名患病胎儿进行的产前诊断，以及该家庭随后一次孕育健康婴儿的妊娠情况。
