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Hereditary tyrosinemiapathogenesis, ...

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Hereditary tyrosinemiapathogenesis, screening and management /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Hereditary tyrosinemiaedited 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:	TyrosinosisDiagnosis.
Online resource:	http://dx.doi.org/10.1007/978-3-319-55780-9
ISBN:	9783319557809$q(electronic bk.)

Hereditary tyrosinemiapathogenesis, 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 ;946..

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$q(electronic bk.)

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

789113
Tyrosinosis
--Diagnosis.

LC Class. No.: RC632.T9

Dewey Class. No.: 616.399

Hereditary tyrosinemiapathogenesis, 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.
260 $a Cham : $b Springer International Publishing : $b Imprint: Springer, $c 2017.
300 $a xv, 247 p. : $b ill. (some col.), digital ; $c 24 cm.
490 1 $a Advances in experimental medicine and biology, $x 0065-2598 ; $v v.959
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 789113
650 0 $a Tyrosinosis $x Treatment. $3 789114
650 1 4 $a Life Sciences. $3 273679
650 2 4 $a Protein Science. $3 376428
700 1 $a Tanguay, Robert M. $3 726212
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830 0 $a Advances in experimental medicine and biology ; $v 946. $3 557559
856 4 0 $u http://dx.doi.org/10.1007/978-3-319-55780-9
950 $a Biomedical and Life Sciences (Springer-11642)