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Hereditary Tyrosinemia

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Cover of 'Hereditary Tyrosinemia'

Table of Contents

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    Book Overview
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    Chapter 1 Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean
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    Chapter 2 Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
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    Chapter 3 Molecular Aspects of the FAH Mutations Involved in HT1 Disease
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    Chapter 4 Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1
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    Chapter 5 Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
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    Chapter 6 The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec
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    Chapter 7 Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom
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    Chapter 8 NTBC and Correction of Renal Dysfunction
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    Chapter 9 Liver Cancer in Tyrosinemia Type 1
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    Chapter 10 Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
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    Chapter 11 Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening
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    Chapter 12 Tyrosinemia Type I in Japan: A Report of Five Cases
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    Chapter 13 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
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    Chapter 14 Hepatorenal Tyrosinemia in Mexico: A Call to Action
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    Chapter 15 Hereditary Tyrosinemia Type 1 in Turkey
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    Chapter 16 From Weed Killer to Wonder Drug
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    Chapter 17 The Québec NTBC Study
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    Chapter 18 Dietary Considerations in Tyrosinemia Type I
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    Chapter 19 Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
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    Chapter 20 Fah Knockout Animals as Models for Therapeutic Liver Repopulation
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    Chapter 21 Gene Therapy in Tyrosinemia: Potential and Pitfalls
Attention for Chapter 5: Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
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Chapter title
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
Chapter number 5
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_5
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

Fernando Alvarez, Grant A. Mitchell

Abstract

Tyrosinemia is a disease of the tyrosine metabolism, affecting mainly liver, kidney and peripheral nerves. Two forms of liver disease caused by a deficiency of FAH are recognised: (1) acute liver failure; (2) chronic liver disease. Since the introduction of NTBC [2-(2-nitro-4-trifluoromethyl benzoyl)-1-3-cyclohexanedione] (nitisinone(R)) in the treatment of tyrosinemia, no liver disease has been observed when started in the first weeks of life. Liver transplantation is a good option for the treatment of tyrosinemic patients developing liver nodules, with high suspicion of hepatocarcinoma. In the long-term outcome of the liver transplant, survival was of 90% in tyrosinemic patients.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 27%
Student > Master 2 18%
Student > Bachelor 1 9%
Researcher 1 9%
Student > Postgraduate 1 9%
Other 0 0%
Unknown 3 27%
Readers by discipline Count As %
Medicine and Dentistry 4 36%
Pharmacology, Toxicology and Pharmaceutical Science 1 9%
Veterinary Science and Veterinary Medicine 1 9%
Nursing and Health Professions 1 9%
Biochemistry, Genetics and Molecular Biology 1 9%
Other 0 0%
Unknown 3 27%