نتایج جستجو برای: orotic acid
تعداد نتایج: 747474 فیلتر نتایج به سال:
Xanthinuria is a familial disorder of purine metabolism that results from a marked deficiency of xanthine oxidase (EC 1.2.3.2) activity. We report here the clinical and biochemical features of a new case of xanthinuria. Serum urate concentration was 0.8 mg/i 00 ml, urinary uric acid excretion was 16 mg per day, urinary oxypurme excretion was 1630 mol per day, and total purine excretion was 314 ...
BACKGROUND Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal per...
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