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POSSIBILITIES FOR TREATMENT AND FOR EARLY PRENATAL DIAGNOSIS OF HEREDITARY TYROSINAEMIA

✍ Scribed by Holme, Elisabeth; Lindblad, Bengt; Lindstedt, Sven


Book ID
122032555
Publisher
The Lancet
Year
1985
Tongue
English
Weight
149 KB
Volume
325
Category
Article
ISSN
0140-6736

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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.