Australian researchers found a 1.9% potential misdiagnosis rate for GA, with 1.0% potentially missed IRDs, mainly pattern dystrophy. IRDs and GA share phenotypical similarities, complicating accurate ...

Abetalipoproteinaemia- 50-100 mg/kg/day of dl-α-tocoferil acetate or about 33-67 mg/kg/day of d-α-tocopherol.

Low vitamin-E concentrations due to impaired intestinal absorption and transport in plasma—such as in abetalipoproteinaemia (Bassen-Kornzweig syndrome), cholestatic liver disease, and familial ...

Abetalipoproteinaemia- 50-100 mg/kg/day of dl-α-tocoferil acetate or about 33-67 mg/kg/day of d-α-tocopherol.

1 Key Laboratory of Molecular Biophysics of MOE, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China 2 State Key Laboratory for Diagnosis and ...

He later conducted research into the role of lipid disturbance in childhood as a precursor of coronary artery disease and his recognition in 1960 of the rare condition of abetalipoproteinaemia. Wolff ...

Copyright: © 2021 Elsevier Ltd. All rights reserved. Adrenal insufficiency can arise from a primary adrenal disorder, secondary to adrenocorticotropic hormone ...

This study provides a structure for microsomal triglyceride transfer protein, a key protein in lipid metabolism and transport. Microsomal triglyceride transfer protein is linked to a human disease ...

An elevated level of plasma LDL (low-density lipoprotein) is an established risk factor for cardiovascular disease. Recently, we reported that the (pro)renin receptor ([P]RR) regulates LDL metabolism ...

Improving understanding of the genetic basis of human non-alcoholic fatty liver disease (NAFLD) has the potential to facilitate risk stratification of affected patients, permit personalized treatment, ...

The microsomal triglyceride transfer protein (MTP), the product of the MTTP gene, is essential for the assembly and secretion of apolipoprotein B–containing lipoproteins, but when defective causes ...