Hereditary tyrosinemia : pathogenesis, screening and management

• Other Authors: Tanguay, Robert M. (Editor)
• Format: Electronic eBook
• Language: English
• Published: Cham, Switzerland : Springer, [2017]
• Series: Advances in experimental medicine and biology ; v. 959.
• Subjects: Tyrosinosis > Diagnosis.; Tyrosinosis > Treatment.; elektronické knihy; electronic books

"Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The...