نتایج جستجو برای: pyridoxine dependent epilepsy
تعداد نتایج: 745226 فیلتر نتایج به سال:
In a previous paper (Hughes, Bower, Raine, and Syed, 1966) it was shown that about one-third of patients with childhood epilepsy showed, on admission, an abnormality of tryptophan metabolism characterized by a high excretion of xanthurenic acid inthe urine followingan oral load oftryptophan. This is usually accompanied by high excretion of certain other metabolites of tryptophan having in commo...
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therap...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed by treatment and examination of the ALDH7A1 mutations. The seizures of the 3 patients were all resis...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید