...Michael M. Page; Claudia Stefanutti; Allan Sniderman; Gerald F. Watts Familial hypercholesterolaemia (FH) is an autosomal co-dominant disorder that markedly raises plasma low-density lipoprotein-cholesterol (LDL-C) concentration, causing premature atherosclerotic coronary artery disease (CAD). FH...

... with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia). Genotypes were determined using PCR and restriction enzyme digestion in 2444 healthy middle-aged (50–61 years) men from the prospective NPHSII...

... (CETP) coronary artery disease familial hypercholesterolaemia hepatic lipase single nucleotide polymorphism CETP (cholesteryl ester transfer protein) is a key player in the metabolism of major plasma lipoproteins. CETP mediates the transfer of cholesteryl esters from HDL (high-density...

...E. D. Lehmann; G. F. Watts; B. Fatemi-Langroudi; R. G. Gosling 1. Aortic compliance and plasma lipid and lipoprotein levels were measured in 20 young patients with heterozygous familial hypercholesterolaemia and in 20 age- and sex-matched control subjects. 2. Patients with familial...

...C. C. T. Smith; B. N. C. Prichard; D. J. Betteridge 1. Plasma and platelet free catecholamine concentrations were measured in 22 normal subjects and in 10 treated and 11 untreated patients with heterozygous familial hypercholesterolaemia. 2. Plasma noradrenaline concentrations were significantly...

...Helena Gylling; Tatu A. Miettinen 1. The present study investigated the role of intestinal cholesterol absorption in the regulation of cholesterol metabolism and serum lipoprotein levels in 22 patients with heterozygous familial hypercholesterolaemia on low to normal cholesterol intake. 2...

...J. M. Allen; G. R. Thompson; N. B. Myant 1. Plasma cortisol concentration was measured in three subjects with homozygous familial hypercholesterolaemia immediately before, and 30 and 60 min after, an intramuscular injection of adrenocorticotrophic hormone. The baseline values and the values at 30...

...G. R. Thompson; T. Spinks; A. Ranicar; N. B. Myant 1. The non-steady-state turnover of low-density lipoprotein (LDL), labelled in its apoprotein moiety (apo-B) with 131 I, was determined in four patients with familial hypercholesterolaemia, three of them homozygotes. 2. The fractional and absolute...