Tanguay, Robert M.

Hereditary Tyrosinemia

Tanguay, Robert M. - Hereditary Tyrosinemia, ebook


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ISBN: 9783319557809
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Table of contents

Part I. Hereditary Tyrosinemia Type I

1. Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean
Jean Larochelle

2. Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
Geneviève Morrow, Robert M. Tanguay

Part II. Molecular Basis of HT1

3. Molecular Aspects of the FAH Mutations Involved in HT1 Disease
Geneviève Morrow, Francesca Angileri, Robert M. Tanguay

4. Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1
Robert M. Tanguay, Francesca Angileri, Arndt Vogel

Part III. Pathology

5. Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
Fernando Alvarez, Grant A. Mitchell

6. The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec
Ugur Halac, Josée Dubois, Grant A. Mitchell

7. Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom
Patrick McKiernan

8. NTBC and Correction of Renal Dysfunction
Arianna Maiorana, Carlo Dionisi-Vici

9. Liver Cancer in Tyrosinemia Type 1
Willem G. Ginkel, Jan P. Pennings, Francjan J. Spronsen

10. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
Willem G. Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Francjan J. Spronsen

Part IV. Screening

11. Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening
Anibh M. Das, Sebene Mayorandan, Nils Janzen

12. Tyrosinemia Type I in Japan: A Report of Five Cases
Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo

13. Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
Yves Giguère, Marie-Thérèse Berthier

14. Hepatorenal Tyrosinemia in Mexico: A Call to Action
Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva

15. Hereditary Tyrosinemia Type 1 in Turkey
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever

Part V. Management and Future

16. From Weed Killer to Wonder Drug
Edward A. Lock

17. The Québec NTBC Study
Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas, Jean-François Bussières, Josée Dubois, Daphna Fenyves, Paul Goodyer, Martyne Gosselin, Ugur Halac, Patrick Labbé, Rachel Laframboise, Bruno Maranda, Serge Melançon, Aicha Merouani, Grant A. Mitchell, John Mitchell, Guy Parizeault, Luc Pelletier, Véronique Phan, Jean-François Turcotte

18. Dietary Considerations in Tyrosinemia Type I
Francjan J. Spronsen, Margreet Rijn, Uta Meyer, Anibh M. Das

19. Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
Grant A. Mitchell, Hao Yang

20. Fah Knockout Animals as Models for Therapeutic Liver Repopulation
Markus Grompe

21. Gene Therapy in Tyrosinemia: Potential and Pitfalls
Sophie Carter, Yannick Doyon

Keywords: Life Sciences, Protein Science

Publication year
Advances in Experimental Medicine and Biology
Page amount
15 pages
Natural Sciences
Printed ISBN

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