| 书目名称 | Hereditary Tyrosinemia | | 副标题 | Pathogenesis, Screen | | 编辑 | Robert M. Tanguay | | 视频video | | | 概述 | A comprehensive account of Tyrosinemia.Written by some of the world’s leading experts in this field.Latest in-depth reviews on this important metabolic disease | | 丛书名称 | Advances in Experimental Medicine and Biology | | 图书封面 |  | | 描述 | 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. | | 出版日期 | Book 2017 | | 关键词 | Metabolic disease; Tyrosinemia; Liver cancer; Transplantation; Newborn screening | | 版次 | 1 | | doi | https://doi.org/10.1007/978-3-319-55780-9 | | isbn_softcover | 978-3-319-85745-9 | | isbn_ebook | 978-3-319-55780-9Series ISSN 0065-2598 Series E-ISSN 2214-8019 | | issn_series | 0065-2598 | | copyright | The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerl |
The information of publication is updating
|
|
发表于 2025-3-21 18:57:59
