𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Recommendations for the management of tyrosinaemia type 1

✍ Scribed by Corinne de Laet, Carlo Dionisi-Vici, James V Leonard…


Book ID
120697140
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
388 KB
Volume
8
Category
Article
ISSN
1750-1172

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation analysis for prenatal diagnosis
✍ Aki Mustonen; Hans Kristian Ploos Van Amstel; Ruud Berger; Matti K. Salo; Lasse 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 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.