Tanguay R.M. (ed.) Hereditary Tyrosinemia: Pathogenesis, Screening and Management

Springer International Publishing AG, 2017. — 247 p. — (Advances in Experimental Medicine and Biology 959). — ISBN: 978-3-319-55779-3.
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 around one per 100,000 births, but some regions have a significantly higher incidence due to founder effects.Hereditary Tyrosinemia Type.
Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean.
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
Molecular Basis of HT1.
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1.
Pathology.
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine.
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom.
NTBC and Correction of Renal Dysfunction.
Liver Cancer in Tyrosinemia Type 1.
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients.
Screening.
Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening.
Tyrosinemia Type I in Japan: A Report of Five Cases.
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Hepatorenal Tyrosinemia in Mexico: A Call to Action.
Hereditary Tyrosinemia Type 1 in Turkey.
Management and Future.
From Weed Killer to Wonder Drug.
The Québec NTBC Study.
Dietary Considerations in Tyrosinemia Type I.
Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint.
Fah Knockout Animals as Models for Therapeutic Liver Repopulation.
Gene Therapy in Tyrosinemia: Potential and Pitfalls.