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Hereditary tyrosinemia = pathogenesis, screening and management /

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Hereditary tyrosinemia/ edited by Robert M. Tanguay.
Reminder of title:	pathogenesis, screening and management /
other author:	Tanguay, Robert M.
Published:	Cham :Springer International Publishing : : 2017.,
Description:	xv, 247 p. :ill. (some col.), digital ; : 24 cm.;
Contained By:	Springer eBooks
Subject:	Tyrosinosis - Diagnosis. -
Online resource:	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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245 0 0 $a Hereditary tyrosinemia $h [electronic resource] : $b pathogenesis, screening and management / $c edited by Robert M. Tanguay.
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505 0 $a Section I: Tyrosinemia Type 1: Heredity -- Section II:The Molecular Basis of HTI -- Section III: Pathology -- Section IV: Screening, Management and The Future.
520 $a 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.
650 0 $a Tyrosinosis $x Diagnosis. $3 1198583
650 0 $a Tyrosinosis $x Treatment. $3 1198584
650 1 4 $a Life Sciences. $3 593888
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700 1 $a Tanguay, Robert M. $3 1198582
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