Literature DB >> 28755180

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

Jean Larochelle1.   

Abstract

Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1).

Entities:  

Keywords:  Alpha foetoprotein; Charlevoix; Diagnosis; HT1; Liver cirrhosis; Tyrosyluria

Mesh：

Year:  2017        PMID： 28755180     DOI： 10.1007/978-3-319-55780-9_1

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


  3 in total

1.  Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.

Authors:  Isabel Ibarra-González; Cynthia Fernández-Lainez; Miguel Angel Alcántara-Ortigoza; Ariadna González-Del Angel; Liliana Fernández-Henández; Sara Guillén-López; Leticia Belmont-Martínez; Lizbeth López-Mejía; Gustavo Varela-Fascinetto; Marcela Vela-Amieva
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183

2.  Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.

Authors:  Haaike Colemonts-Vroninks; Jessie Neuckermans; Lionel Marcelis; Paul Claes; Steven Branson; Georges Casimir; Philippe Goyens; Geert A Martens; Tamara Vanhaecke; Joery De Kock
Journal:  Genes (Basel)       Date:  2020-12-22       Impact factor: 4.096

Review 3.  Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Authors:  Mbarka Bchetnia; Luigi Bouchard; Jean Mathieu; Philippe M Campeau; Charles Morin; Diane Brisson; Anne-Marie Laberge; Hélène Vézina; Daniel Gaudet; Catherine Laprise
Journal:  J Med Genet       Date:  2021-04-28       Impact factor: 6.318
  3 in total

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