3 תוצאות
L-2-Hydroxyglutaric aciduria (L-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes L: -2-hydroxyglutarate dehydrogenase, which normally catalyses L: -2-hydroxyglutarate to alpha-ketoglutarate. It
Osteoid osteoma is a benign osteoid-forming tumor of the bone characterized by pain which is relieved by nonsteroidal anti-inflammatory drugs. Very high levels of prostaglandins have been found in the lesion. In nine patients with osteoid osteoma, prostaglandin E2 (PGE2) and prostacyclin (PGI2)
In our studies on patients with head injury, it was noted that there are some correlations between their clinical courses and the urinary excretion of creatine (cr), creatinine (Crn), 17-ketosteroid and 17-hydroxycorticosteroid. We observed the high urinary excretion of Cr in patients with severe