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Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1

โœ Scribed by Dr Patrick J. McKiernan

Book ID
119928515
Publisher
Springer International Publishing AG
Year
2006
Tongue
English
Weight
102 KB
Volume
66
Category
Article
ISSN
0012-6667

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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.