Advances in Experimental Medicine and Biology

Hereditary Tyrosinemia

Pathogenesis, Screening and Management

Editors: Tanguay, Robert M (Ed.)

  • 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
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書籍の購入

イーブック 142,79 €
価格の適用国: Japan (小計)
  • ISBN 978-3-319-55780-9
  • ウォーターマーク付、 DRMフリー
  • ファイル形式: PDF, EPUB
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  • ご購入後、すぐにダウンロードしていただけます。
ハードカバー 169,99 €
価格の適用国: Japan (小計)
  • ISBN 978-3-319-55779-3
  • 個人のお客様には、世界中どこでも配送料無料でお届けします。
  • Usually dispatched within 3 to 5 business days.
この書籍について

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.

Table of contents (21 chapters)

  • Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean

    Larochelle, Jean

    Pages 3-8

    Preview Buy Chapter 26,95 €
  • Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1

    Morrow, Geneviève (et al.)

    Pages 9-21

    Preview Buy Chapter 26,95 €
  • Molecular Aspects of the FAH Mutations Involved in HT1 Disease

    Morrow, Geneviève (et al.)

    Pages 25-48

    Preview Buy Chapter 26,95 €
  • Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1

    Tanguay, Robert M. (et al.)

    Pages 49-64

    Preview Buy Chapter 26,95 €
  • Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine

    Alvarez, Fernando (et al.)

    Pages 67-73

    Preview Buy Chapter 26,95 €

書籍の購入

イーブック 142,79 €
価格の適用国: Japan (小計)
  • ISBN 978-3-319-55780-9
  • ウォーターマーク付、 DRMフリー
  • ファイル形式: PDF, EPUB
  • どの電子書籍リーダーからでもすぐにお読みいただけます。
  • ご購入後、すぐにダウンロードしていただけます。
ハードカバー 169,99 €
価格の適用国: Japan (小計)
  • ISBN 978-3-319-55779-3
  • 個人のお客様には、世界中どこでも配送料無料でお届けします。
  • Usually dispatched within 3 to 5 business days.
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書誌情報

Bibliographic Information
Book Title
Hereditary Tyrosinemia
Book Subtitle
Pathogenesis, Screening and Management
Editors
  • Robert M Tanguay
Series Title
Advances in Experimental Medicine and Biology
Series Volume
959
Copyright
2017
Publisher
Springer International Publishing
Copyright Holder
Springer International Publishing AG
イーブック ISBN
978-3-319-55780-9
DOI
10.1007/978-3-319-55780-9
ハードカバー ISBN
978-3-319-55779-3
Series ISSN
0065-2598
Edition Number
1
Number of Pages
XV, 247
Number of Illustrations and Tables
17 b/w illustrations, 36 illustrations in colour
Topics