Hereditary tyrosinemia type 1 (McKusick 27670) is a heterogeneous disease with poor prognosis, yet there are few reports of the long-term prognosis. It is therefore difficult to decide on the treatment for individual patients. We have conducted an international survey of patients with tyrosinemia ty
Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes
β Scribed by Jacques Poudrier; Francine Lettre; Charles R. Scriver; Jean Larochelle; Robert M. Tanguay
- Book ID
- 115639387
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 444 KB
- Volume
- 64
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
π 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