Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase ( FAH ) intronic disease-causing variant.

Autor: Sikonja J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Brecelj J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Zerjav Tansek M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Repic Lampret B; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Drole Torkar A; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Klemencic S; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Lipovec N; Unit for Clinical Dietetics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Stefanova Kralj V; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Bertok S; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Kovac J; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Faganel Kotnik B; Department of Haematology and Oncology, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Tesarova M; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Remec ZI; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Debeljak M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Battelino T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia., Groselj U; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Dec 16; Vol. 30, pp. 100836. Date of Electronic Publication: 2021 Dec 16 (Print Publication: 2022).