Hereditary Tyrosinemia (eBook)

Foreword: Professor Robert M TanguaySection I: Tyrosinemia Type 1: HeredityChapter 1    HTI: Biochemical features and pathwaysProfessor Genevieve Morrow, Professor Robert M Tanguay Chapter 2     HT1 in Quebec: Occurrence and treatmentDr Grant A. Mitchel Chapter 3     The Evolution and Domain structure of fumarylacetoacetate hydrolase (FAH)Dr Halim MaaroufiProfessor Genevieve MorrowProfessor Robert M Tanguay                             Section II: The Molecular Basis of HTIChapter 4     Mutations in HTIProfessor Genevieve Morrow, Dr Francesca Angileri,  Chapter 5     Molecular Pathogenesis of FAA-induced Liver InjuryDr Arndt Vogel, Professor Robert M Tanguay Section III: PathologyChapter 6   Liver Imagingtbd. Chapter 7     Liver TransplantationDr Patrick McKiernan Chapter 8     HCC in HTI PatientsProfessor Francjan J. van Spronsen Chapter 9     NTBC and the correction of Renal DysfunctionDr Carlo Dionisi-Vici Chapter 10   Neurocognitive, Psychosocial and Neurological Issues in Tyrosinemia Type IProfessor Francjan J. van Spronsen,Professor Stephan Huijbregts,Dr Rianne Jahja Chapter 12   Mental Development in HTIProfessor Philippe Robaey  Section IV: Screening, Management and The FutureChapter 13   Newborn Screening for HT1Professor Yves Giguere Chapter 14  Management of HT1Dr Helene Ogier de Baulny Chapter 15  Inhibitors of PHPPD in the Treatment of HT1Dr Edward LockChapter 16Nitisinone: Pharmacology and DistributionDr Suzanne Atkinson