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Prenatal diagnosis of type I hereditary tyrosinaemia

โœ Scribed by J.K. Ploos van Amstel; R.P.M. Jansen; M. Verjaal; I.E.T. van den Berg; R. Berger


Book ID
118555307
Publisher
The Lancet
Year
1994
Tongue
English
Weight
171 KB
Volume
344
Category
Article
ISSN
0140-6736

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Mutation analysis for prenatal diagnosis
โœ Aki Mustonen; Hans Kristian Ploos Van Amstel; Ruud Berger; Matti K. Salo; Lasse ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB ๐Ÿ‘ 2 views

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.