Free Delivery Over $100
|
|
|||
|
||||
OverviewHereditary 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 FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field. Full Product DetailsAuthor: Robert M. TanguayPublisher: Springer International Publishing AG Imprint: Springer International Publishing AG Edition: Softcover reprint of the original 1st ed. 2017 Volume: 959 Weight: 0.507kg ISBN: 9783319857459ISBN 10: 3319857452 Pages: 247 Publication Date: 12 August 2018 Audience: Professional and scholarly , Professional & Vocational Format: Paperback Publisher's Status: Active Availability: Manufactured on demand  We will order this item for you from a manufactured on demand supplier. Table of ContentsSection I: Tyrosinemia Type 1: Heredity.- Section II:The Molecular Basis of HTI.- Section III: Pathology.- Section IV: Screening, Management and The Future.ReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |
||||
