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Titlebook: Hereditary Tyrosinemia; Pathogenesis, Screen Robert M. Tanguay Book 2017 The Editor(s) (if applicable) and The Author(s), under exclusive l

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樓主
發(fā)表于 2025-3-21 18:57:59 | 只看該作者 |倒序瀏覽 |閱讀模式
書目名稱Hereditary Tyrosinemia
副標(biāo)題Pathogenesis, Screen
編輯Robert M. Tanguay
視頻videohttp://file.papertrans.cn/426/425848/425848.mp4
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
叢書名稱Advances in Experimental Medicine and Biology
圖書封面Titlebook: Hereditary Tyrosinemia; Pathogenesis, Screen Robert M. Tanguay Book 2017 The Editor(s) (if applicable) and The Author(s), under exclusive l
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
關(guān)鍵詞Metabolic disease; Tyrosinemia; Liver cancer; Transplantation; Newborn screening
版次1
doihttps://doi.org/10.1007/978-3-319-55780-9
isbn_softcover978-3-319-85745-9
isbn_ebook978-3-319-55780-9Series ISSN 0065-2598 Series E-ISSN 2214-8019
issn_series 0065-2598
copyrightThe Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerl
The information of publication is updating

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沙發(fā)
發(fā)表于 2025-3-21 21:22:59 | 只看該作者
板凳
發(fā)表于 2025-3-22 02:44:38 | 只看該作者
Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom function appeared better, and hypertension less common in those treated in the Nitisinone era..Outcome was poorer for those four children with established malignancy; one was unfit for transplantation and another developed a pulmonary metastasis, which was successfully resected.
地板
發(fā)表于 2025-3-22 04:40:44 | 只看該作者
Liver Cancer in Tyrosinemia Type 1rease of the tumor marker α-fetoprotein is seen or if the α-fetoprotein concentrations remain just above the normal range. A rise of α-fetoprotein in these HT1 patients is more or less pathognomonic for liver cancer. Although hepatoblastoma development occurs in HT1 patients, most HT1 patients devel
5#
發(fā)表于 2025-3-22 10:27:59 | 只看該作者
Neurological and Neuropsychological Problems in Tyrosinemia Type I PatientsC treatment is started early and given continuously, all clinical problems seem to be solved. However, recent research findings indicate that HTI patients have a non-optimal neurocognitive outcome, showing (among others) a lower IQ and impaired executive functioning and social cognition. Unfortunate
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發(fā)表于 2025-3-22 15:15:00 | 只看該作者
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發(fā)表于 2025-3-22 20:13:20 | 只看該作者
Tyrosinemia Type I in Japan: A Report of Five Caseswherein residual activity was considerably present. When combined therapy with a low phenylalanine and tyrosine diet and NTBC administration is started after early diagnosis, patients can survive without liver transplantation. Development of liver cancer is not found in the cases in Japan, but perfo
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發(fā)表于 2025-3-23 00:21:54 | 只看該作者
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Updatequantitative (Q) succinylacetone (SA) testing (red blood cells δ-aminolevulinate dehydratase inhibition), with immunoreactive FAH as the confirmatory test. This approach allowed to identify 118 of 123 affected newborns. In 1998, owing to earlier hospital discharge and increased rate of breastfeeding
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發(fā)表于 2025-3-23 01:39:21 | 只看該作者
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