نتایج جستجو برای: citrullinemia
تعداد نتایج: 234 فیلتر نتایج به سال:
In a recent issue of Critical Care, Poole and colleagues found that plasma citrulline concentration and glucose absorption were reduced in 20 critically ill patients compared with 15 controls; however, the authors found no correlation between these two variables. This study highlights the question of the accuracy of plasma citrulline for assessing small bowel function in critically ill patients...
A 48-year-old male presented with an acute change in mental status due to a marked elevation of plasma NH3 and was diagnosed with citrullinemia with amino acid analysis of blood. Hemodialysis and hemodiafiltration were performed, but serum chemical analysis did not show any improvement which led us to terminate dialysis following intensive care for 3 days. Surprisingly, NH3 level had decreased ...
Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for CTLN1 in day 3 embryos using polymerase chain reaction was performed for live birth of healthy bab...
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