Tanguay, Robert M.
Hereditary Tyrosinemia
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
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
Nyckelord: Life Sciences, Protein Science
- Utgivare
- Tanguay, Robert M.
- Utgivare
- Springer
- Utgivningsår
- 2017
- Språk
- en
- Utgåva
- 1
- Serie
- Advances in Experimental Medicine and Biology
- Sidantal
- 15 sidor
- Kategori
- Naturvetenskaper
- Format
- E-bok
- eISBN (PDF)
- 9783319557809
- Tryckt ISBN
- 978-3-319-55779-3