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Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1

✍ Scribed by Santra, Saikat; Baumann, Ulrich

Book ID
118180529
Publisher
Informa plc
Year
2008
Tongue
English
Weight
234 KB
Volume
9
Category
Article
ISSN
1465-6566

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Mutation analysis for prenatal diagnosis
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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.