نتایج جستجو برای: urea cycle disorders
تعداد نتایج: 967162 فیلتر نتایج به سال:
Urea cycle disorders are inherited deficiencies of the enzymes involved in the cellular excretion of excess ammonia produced during protein metabolism. Hyperammonemia associated with these disorders is usually manifested by decreased level of consciousness, irritability, seizures, vomiting, and poor feeding. Although the majority of recognized patients are children, a delayed presentation is se...
Hyperammonemic encephalopathy (he) is a rare complication of malignancy and chemotherapy. Although the cause of he is unclear, a functional arginine deficiency secondary to increased catabolism has been suggested as a possible mechanism. Either that deficiency or an undetermined metabolite could lead to inhibition of N-acetylglutamate synthase (nags), a urea cycle enzyme, resulting in hyperammo...
In an effort to develop standards for the treatment of patients with urea cycle disorders, a consensus conference was held in Washington, DC, from April 27-29, 2000. Conference participants included physicians, scientists, nurses, dieticians, and a genetic counselor, all experts in their various medical fields in these diseases. Representatives from the Food and Drug Administration and the Nati...
Urea cycle disorders (UCD) are human conditions caused by the dysregulation of nitrogen transfer from ammonia nitrogen into urea. The biochemistry and the genetics of these disorders were well elucidated. Earlier diagnosis and improved treatments led to an emerging, longer-lived cohort of patients. The natural history of some of these disorders began to point to pathophysiological processes tha...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید