Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases
作者： Hanaa El-Karaksy , Mona Fahmy , Mona El-Raziky , Nehal El-Koofy , Rokaya El-Sayed
DOI: 10.1007/S12519-011-0287-3
关键词: Inborn error of metabolism 、 Pediatric surgery 、 Pediatrics 、 Single Center 、 Medicine 、 Clinical study 、 Hereditary tyrosinemia 、 Cohort 、 Liver transplantation 、 Maternal and child health
摘要: Background Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. This study was undertaken to define the presenting clinical, biochemical and imaging features outcome 2-(2-motrp-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) therapy liver transplantation in a cohort children diagnosed with HT1.
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