Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-55780-9_1
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). read more here.
Keywords: tyrosinemia saguenay; lac jean; tyrosinemia; discovery hereditary ... See more keywords
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED
Sign Up to like & getrecommendations! Published in 2021 at "Endocrine"
DOI: 10.1007/s12020-021-02826-7
Abstract: Purpose Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is more prevalent in some founder populations, but relatively unexplored in Canada. This study aimed at investigating the French-Canadian patients through phenotypic and genotypic characterization. Method Phenotype and demographic characterization… read more here.
Keywords: french canadian; muscle; saint jean; lac saint ... See more keywords