Melnikova N I, Kartseva E V, Kirsanov A S, Strogonov I A, Ageeva L N, Kharitonova G D, Olhova E B, Belyaeva T Yu
Anesteziol Reanimatol. 2015 May-Jun;60(3):16-9.
Diagnosis of amino acid metabolism disorders according to the clinics without laboratory diagnosis is almost impossible in infants with a history of neonatal and/or premorbid background and multi-organ failure. Mortality due to hereditary tyrosinemia type I is greater than 90%.
对于有新生儿病史和/或病前背景且伴有多器官功能衰竭的婴儿，在没有实验室诊断的情况下，几乎不可能根据临床症状诊断氨基酸代谢紊乱。I型遗传性酪氨酸血症导致的死亡率超过90%。
