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Advances in Experimental Medicine and Biology

Hereditary Tyrosinemia

Pathogenesis, Screening and Management

Editors: Tanguay, Robert M (Ed.)

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  • 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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eBook 139,09 €
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  • ISBN 978-3-319-55780-9
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About this book

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)

Table of contents (21 chapters)

Buy this book

eBook 139,09 €
price for Spain (gross)
  • ISBN 978-3-319-55780-9
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover 176,79 €
price for Spain (gross)
  • ISBN 978-3-319-55779-3
  • Free shipping for individuals worldwide
  • Immediate ebook access, if available*, with your print order
  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
Softcover 176,79 €
price for Spain (gross)
  • ISBN 978-3-319-85745-9
  • Free shipping for individuals worldwide
  • Immediate ebook access, if available*, with your print order
  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
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Bibliographic Information

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
eBook ISBN
978-3-319-55780-9
DOI
10.1007/978-3-319-55780-9
Hardcover ISBN
978-3-319-55779-3
Softcover ISBN
978-3-319-85745-9
Series ISSN
0065-2598
Edition Number
1
Number of Pages
XV, 247
Number of Illustrations
17 b/w illustrations, 36 illustrations in colour
Topics

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