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Hereditary tyrosinemia = pathogenesis, screening and management /

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Hereditary tyrosinemia/ edited by Robert M. Tanguay.
其他題名:	pathogenesis, screening and management /
其他作者:	Tanguay, Robert M.
出版者:	Cham :Springer International Publishing : : 2017.,
面頁冊數:	xv, 247 p. :ill. (some col.), digital ; : 24 cm.;
Contained By:	Springer eBooks
標題:	Tyrosinosis - Diagnosis. -
電子資源:	http://dx.doi.org/10.1007/978-3-319-55780-9
ISBN:	9783319557809

Hereditary tyrosinemia = pathogenesis, screening and management /
Hereditary tyrosinemiapathogenesis, screening and management /[electronic resource] :edited by Robert M. Tanguay. - Cham :Springer International Publishing :2017. - xv, 247 p. :ill. (some col.), digital ;24 cm. - Advances in experimental medicine and biology,v.9590065-2598 ;. - Advances in experimental medicine and biology ;780..

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.

ISBN: 9783319557809

Standard No.: 10.1007/978-3-319-55780-9doiSubjects--Topical Terms:

1198583
Tyrosinosis
--Diagnosis.

LC Class. No.: RC632.T9

Dewey Class. No.: 616.399

Hereditary tyrosinemia = pathogenesis, screening and management /
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