المؤلفون: The Québec NTBC Study Group, Alvarez, Fernando^Aff6, Atkinson, Suzanne^Aff7, Bouchard, Manon^Aff7, Brunel-Guitton, Catherine^Aff7, Buhas, Daniela^Aff9, Bussières, Jean-François^Aff7, Dubois, Josée^Aff7, Fenyves, Daphna^Aff10, Goodyer, Paul^Aff9, Gosselin, Martyne^Aff7, Halac, Ugur^Aff8, Labbé, Patrick^Aff11, Laframboise, Rachel^Aff12, Maranda, Bruno^Aff13, Melançon, Serge^Aff9, Merouani, Aicha^Aff7, Mitchell, Grant A.^Aff7, Mitchell, John^Aff9, Parizeault, Guy^Aff11, Pelletier, Luc^Aff12, Phan, Véronique^Aff7, Turcotte, Jean-François^Aff12

المساهمون: COHEN, IRUN R., Series editor^Aff1, LAJTHA, ABEL, Series editor^Aff2, LAMBRIS, JOHN D., Series editor^Aff3, PAOLETTI, RODOLFO, Series editor^Aff4, Tanguay, Robert M., editor^Aff5

المصدر: Hereditary Tyrosinemia : Pathogenesis, Screening and Management. 959:187-195

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المؤلفون: Larochelle, Jean, Alvarez, Fernando, Bussières, Jean-François, Chevalier, Isabelle, Dallaire, Louis, Dubois, Josée, Faucher, Frédéric, Fenyves, Daphna, Goodyer, Paul, Grenier, André, Holme, Elisabeth, 1947, Laframboise, Rachel, Lambert, Marie, Lindstedt, Sven, Maranda, Bruno, Melançon, Serge, Merouani, Aicha, Mitchell, John, Parizeault, Guy, Pelletier, Luc, Phan, Véronique, Rinaldo, Piero, Scott, C Ronald, Scriver, Charles, Mitchell, Grant A

المصدر: Molecular genetics and metabolism. 107(1-2):49-54

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin

URL الوصول: https://gup.ub.gu.se/publication/168073

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المؤلفون: Hao Yang, Al-Hertani, Walla, Cyr, Denis, Laframboise, Rachel, Parizeault, Guy, Shu Pei Wang, Rossignol, Francis, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.

المصدر: Journal of Medical Genetics; Apr2017, Vol. 54 Issue 4, p241-247, 7p

المؤلفون: Alvarez F; Service de gastroentérologie, hépatologie et nutrition, CHU Sainte-Justine, Université de Montréal, 3175 chemin Côte-Sainte-Catherine, Montréal, Québec, H3T 1C5, Canada., Atkinson S; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Bouchard M; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Brunel-Guitton C; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Buhas D; Department of Genetics (DB, SM) and Divisions of Endocrinology (JM) and Nephrology (PG), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Canada., Bussières JF; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Dubois J; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Fenyves D; Division of Hepatology, Department of Internal Medicine, CHUM, Université de Montréal (DF), Montreal, Canada., Goodyer P; Department of Genetics (DB, SM) and Divisions of Endocrinology (JM) and Nephrology (PG), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Canada., Gosselin M; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Halac U; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, CHU Sainte-Justine and Research Center, Université de Montréal, Montreal, QC, Canada., Labbé P; Departments of Pediatrics (GP) and Internal Medicine (PL), Hopital de Chicoutimi, Chicoutimi, Québec, Canada., Laframboise R; Divisions of Medical Genetics (RL), Gastroenterology (LP) and General Pediatrics (JFT), Department of Pediatrics, Université Laval, Québec, Canada., Maranda B; Department of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Québec (BM), Canada., Melançon S; Department of Genetics (DB, SM) and Divisions of Endocrinology (JM) and Nephrology (PG), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Canada., Merouani A; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Mitchell GA; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada. grant.mitchell@recherche-ste-justine.qc.ca., Mitchell J; Department of Genetics (DB, SM) and Divisions of Endocrinology (JM) and Nephrology (PG), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Canada., Parizeault G; Departments of Pediatrics (GP) and Internal Medicine (PL), Hopital de Chicoutimi, Chicoutimi, Québec, Canada., Pelletier L; Divisions of Medical Genetics (RL), Gastroenterology (LP) and General Pediatrics (JFT), Department of Pediatrics, Université Laval, Québec, Canada., Phan V; Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada., Turcotte JF; Divisions of Medical Genetics (RL), Gastroenterology (LP) and General Pediatrics (JFT), Department of Pediatrics, Université Laval, Québec, Canada.

مؤلفون مشاركون: Québec NTBC Study Group

المصدر: Advances in experimental medicine and biology [Adv Exp Med Biol] 2017; Vol. 959, pp. 187-195.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cyclohexanones/*therapeutic use , Enzyme Inhibitors/*therapeutic use , Nitrobenzoates/*therapeutic use , Tyrosinemias/*drug therapy, Heptanoates/metabolism ; Humans ; Infant, Newborn ; Liver Diseases/drug therapy ; Liver Diseases/etiology ; Liver Diseases/metabolism ; Liver Transplantation/methods ; Neonatal Screening/methods ; Quebec ; Tyrosinemias/complications ; Tyrosinemias/metabolism