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由于SLC25A13基因突变而引起的柠檬素缺乏常导致成年人Ⅱ型瓜氨酸血症(CTLN2)和一种新生儿期肝内胆汁淤积(NICCD)。在新生儿普查(NMS)中,基于高半乳糖浓度、高苯丙氨酸浓度和(或)高蛋氨酸浓度,约有一半NICCD患者被发现。为了阐明围生期和新生儿期的影响及NMS不一致的结果,作者检测了NMS的
Citrin deficiency due to mutations in the SLC25A13 gene often leads to adult type II citrullinemia (CTLN2) and a neonatal intrahepatic cholestasis (NICCD). In the neonatal census (NMS), about half of NICCD patients are found based on high-galactose concentration, high-phenylalanine concentration and / or high-methionine concentration. In order to elucidate the impact of perinatal and neonatal periods and NMS inconsistencies, the authors examined the effects of NMS