Hereditary Tyrosinemia: Pathogenesis, Screening and Management

Foreword: Professor Robert M Tanguay

Section I: Tyrosinemia Type 1: Heredity

Chapter 1   

HTI: Biochemical features and pathways
Professor Genevieve Morrow, 
Professor Robert M Tanguay

Chapter 2    

HT1 in Quebec: Occurrence and treatment
Dr Grant A. Mitchel

Chapter 3    

The Evolution and Domain structure of fumarylacetoacetate hydrolase (FAH)
Dr Halim Maaroufi
Professor Genevieve Morrow
Professor Robert M Tanguay

Section II: The Molecular Basis of HTI

Chapter 4    

Chapter 5    

Molecular Pathogenesis of FAA-induced Liver Injury
Dr Arndt Vogel, 
Professor Robert M Tanguay

Section III: Pathology

Liver Imaging
tbd.

Chapter 7    

Liver Transplantation
Dr Patrick McKiernan

Chapter 8    

HCC in HTI Patients
Professor Francjan J. van Spronsen

Chapter 9    

NTBC and the correction of Renal Dysfunction
Dr Carlo Dionisi-Vici

Chapter 10  

Neurocognitive, Psychosocial and Neurological Issues in Tyrosinemia Type I
Professor Francjan J. van Spronsen,
Professor Stephan Huijbregts,
Dr Rianne Jahja

Chapter 12  

Mental Development in HTI
Professor Philippe Robaey

Section IV: Screening, Management and The Future

Chapter 13  

Newborn Screening for HT1
Professor Yves Giguere

Chapter 14  
Management of HT1
Dr Helene Ogier de Baulny

Chapter 15  
Inhibitors of PHPPD in the Treatment of HT1
Dr Edward Lock

Chapter 16
Nitisinone: Pharmacology and Distribution
Dr Suzanne Atkinson