Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
✍ Scribed by Ulla Rüetschi; Roberto Cerone; Celia Pérez-Cerda; Maria Cristina Schiaffino; Sue Standing; Magdalena Ugarte; Elisabeth Holme
- Book ID
- 106136365
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 323 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme fumaryl acetoacetate hydrolase (FAH, EC 3.7.1.2.). We have used reverse transcription and the polymerize chain reaction to amplify the peptide coding region of the FAH cDNA from four patients w
Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suffered from liver disease at presentation. Six died