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書名 Hereditary tyrosinemia : pathogenesis, screening and management / edited by Robert M. Tanguay
出版項 Cham : Springer International Publishing : Imprint: Springer, 2017
國際標準書號 9783319557809 (electronic bk.)
9783319557793 (paper)
國際標準號碼 10.1007/978-3-319-55780-9 doi
book jacket
說明 1 online resource (xv, 247 pages) : illustrations (some color), digital ; 24 cm
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
text file PDF rda
系列 Advances in experimental medicine and biology, 0065-2598 ; volume 959
Advances in experimental medicine and biology ; volume 959
附註 Section I: Tyrosinemia Type 1: Heredity -- Section II:The Molecular Basis of HTI -- Section III: Pathology -- Section IV: Screening, Management and The Future
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 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
Host Item Springer eBooks
主題 Tyrosinosis -- Diagnosis
Tyrosinosis -- Treatment
Life Sciences
Protein Science
Alt Author Tanguay, Robert M., editor
SpringerLink (Online service)
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