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Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Yang, Hao; Al-Hertani, Walla; Cyr, Denis; Laframboise, Rachel; Parizeault, Guy; Wang, Shu Pei; Rossignol, Francis; Berthier, Marie-Thérèse; Giguère, Yves; Waters, Paula J; Mitchell, Grant A.
Affiliation
  • Yang H; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.
  • Al-Hertani W; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
  • Cyr D; Departments of Medical Genetics and Paediatrics, Cumming School of Medicine, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.
  • Laframboise R; Department of Medical Genetics, Centre universitaire de Santé McGill (CUSM), Québec, Canada.
  • Parizeault G; Service de Génétique médicale, Département de Pédiatrie, Centre hospitalier universitaire de Sherbrooke (CHUS), Sherbrooke, Québec, Canada.
  • Wang SP; Service de Génétique médicale, Département de Pédiatrie, CHU de Québec-Centre hospitalier de l'Université Laval (CHUL), Québec City, Québec, Canada.
  • Rossignol F; Département de Pédiatrie, Centre Hospitalier de la Sagamie, Sagamie, Québec, Canada.
  • Berthier MT; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.
  • Giguère Y; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.
  • Waters PJ; Programme québécois de Dépistage Néonatal Sanguin, CHU de Québec-Université Laval, Québec City, Québec, Canada.
  • Mitchell GA; Programme québécois de Dépistage Néonatal Sanguin, CHU de Québec-Université Laval, Québec City, Québec, Canada.
J Med Genet ; 54(4): 241-247, 2017 04.
Article in En | MEDLINE | ID: mdl-27876694

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tyrosinemias / Glutathione Transferase / Hydrolases / Liver Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Med Genet Year: 2017 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tyrosinemias / Glutathione Transferase / Hydrolases / Liver Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Med Genet Year: 2017 Document type: Article Affiliation country: Country of publication: