Thoene J, Sweetman L, Shafai T, Kennaway N, Fellman J, Nyhan W
J Pediatr. 1978 Jan;92(1):108-12. doi: 10.1016/s0022-3476(78)80088-2.
A premature infant presented with elevated concentrations of tyrosine in blood and urine, evidence of hepatocellular damage, demineralization of the bones, and a renal Fanconi syndrome. This is the clinical picture found in hereditary tyrosinemia. The infant also had a perinatal infection with cytomegalovirus.
一名早产儿出现血液和尿液中酪氨酸浓度升高、肝细胞损伤迹象、骨骼脱矿质以及肾性范科尼综合征。这是遗传性酪氨酸血症的临床表现。该婴儿还患有围产期巨细胞病毒感染。