Hereditary tyrosinemia : pathogenesis, screening and management

"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 one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The...

Full description

Saved in:
Bibliographic Details
Other Authors Tanguay, Robert M. (Editor)
Format Electronic eBook
LanguageEnglish
Published Cham, Switzerland : Springer, [2017]
SeriesAdvances in experimental medicine and biology ; v. 959.
Subjects
Tyrosinosis > Diagnosis.
Tyrosinosis > Treatment.
elektronické knihy
electronic books
Online AccessFull text
ISBN9783319557809
9783319557793
ISSN2214-8019 ;
Physical Description1 online resource (xv, 247 pages) : illustrations (some color), color portraits

Cover

Table of Contents:
  • Hereditary tyrosinemia type I. Discovery of hereditary tyrosinemia in Saguenay- Lac St-Jean / Jean Larochelle
  • Biochemical and clinical aspects of hereditary tyrosinemia type 1 / Geneviève Morrow, Robert M. Tanguay
  • Molecular basis of HT1. Molecular aspects of the FAH mutations involved in HT1 disease / Geneviève Morrow, Francesca Angileri, Robert M. Tanguay
  • Molecular pathogenesis of liver injury in hereditary tyrosinemia 1 / Robert M. Tanguay, Francesca Angileri, Arndt Vogel
  • Pathology. Tyrosinemia and liver transplantation: experience at CHU Sainte-Justine / Fernando Alvarez, Grant A. Mitchell
  • The liver in tyrosinemia type I: clinical management and course in Quebec / Ugur Halac, Josée Dubois, Grant A. Mitchell
  • Liver transplantation for hereditary tyrosinaemia type 1 in the United Kingdom / Patrick McKiernan
  • NTBC and correction of renal dysfunction / Arianna Maiorana, Carlo Dionisi-Vici
  • Liver cancer in tyrosinemia type 1 / Willem G. van Ginkel, Jan P. Pennings, Francjan J. van Spronsen
  • Neurological and neuropsychological problems in tyrosinemia type I patients / Willem G. van Ginkel, Rianne Jahja, Stephan C.J. Huijbregts, Francjan J. van Spronsen
  • Screening. Diagnosing hepatorenal tyrosinaemia in Europe: newborn mass screening versus selective screening / Anibh M. Das, Sebene Mayorandan, Nils Janzen
  • Tyrosinemia type I in Japan: a report of five cases / Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo
  • Newborn screening for hereditary tyrosinemia type I in Québec: update / Yves Giguère, Marie-Thérèse Berthier
  • Hepatorenal tyrosinemia in Mexico: a call to action / Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez [and others]
  • Hereditary tyrosinemia type 1 in Turkey / Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever
  • Management and future. From weed killer to wonder drug / Edward A. Lock
  • The Québec NTBC study / Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton [and others]
  • Dietary considerations in tyrosinemia type I / Francjan J. van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M. Das
  • Remaining challenges in the treatment of tyrosinemia from the clinician's viewpoint / Grant A. Mitchell, Hao Yang
  • Fah knockout animals as models for therapeutic liver repopulation / Markus Grompe
  • Gene therapy in tyrosinemia: potential and pitfalls / Sophie Carter, Yannick Doyon.

Similar Items