4 вынікі
OBJECTIVE
Gaucher's disease is a rare genetic disorder that results in the accumulation of cerebrosides in the liver, spleen, kidneys, lungs, brain and bone marrow. The deficiency of the specific lysosomal enzyme glucocerebrosidase is considered as causative factor. The first effective treatment for
A 37-year-old male with metachromatic leukodystrophy, a congenital cerebroside storage disease strongly associated with benign gallbladder polyps, presented with hemobilia and acalculous cholecystitis due to a long, slender, benign gallbladder polyp. This case report extends the clinical spectrum of
von Willebrand disease (VWD) is a common inherited bleeding disorder. Accurate diagnosis and classification of VWD is crucial for clinical management. A detailed clinical history, including that of bleeding, is required. A family and drug history are also important. Genetic factors such as blood
The paper is concerned with a study of the glycolipid content in the blood of 70 patients with acute disorders of brain circulation and in 14 patients with the initial signs of insufficiency of circulation. It was established that in the plasma and blood cells in patients with ischemic and