5 结果
In 5 patients, haemolysis was intrasplenic. Red cell deformity could be acquired by foreign red cells transfused into the patient. Association of the two abnormalities (acanthocytosis and glutathion peroxydase deficiency) was necessary for the onset of haemolysis. They progressed in parallel and
Accumulation of long-chain 3-hydroxy fatty acids is the biochemical hallmark of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies. These disorders are clinically characterized by neurological symptoms, such as convulsions and lethargy, as
OBJECTIVE
Little is known about the role of mitochondrial beta-oxidation in development of nonalcoholic fatty liver disease (NAFLD). Mitochondrial trifunctional protein (MTP) catalyzes long-chain fatty acid oxidation. Recently, we generated a mouse model for MTP deficiency and reported that