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Phenylketonuria: an inborn error of phenylalanine metabolism.
- Robin A. Williams, C. Mamotte, J. Burnett
- Medicine, BiologyClinical biochemist reviews
- 1 February 2008
A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies.
Meta-Analysis of Neuropsychological Symptoms of Adolescents and Adults with PKU
- J. Moyle, A. Fox, M. Arthur, M. Bynevelt, J. Burnett
- Psychology, BiologyNeuropsychology Review
- 5 April 2007
Current understanding of the etiology of PKU is examined, along with a meta-analysis examining neuropsychological and intellectual presentations in continuously treated adolescents and adults, with results indicating patients with PKU differed significantly from controls on Full-Scale IQ, processing speed, attention, inhibition, and motor control.
The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population.
HDL particle size is a critical determinant of ABCA1-mediated macrophage cellular cholesterol export.
It is shown that ABCA1 is the major mediator of macrophage cholesterol efflux to HDL, demonstrating most marked efficiency with small, dense HDL subfractions (HDL3b and HDL3c).
Genetic determinants of hepatic steatosis in man
Recent progress on genomic variants and their association with hepatic steatosis are reviewed and the potential impact of these genetic studies on clinical practice is discussed.
Monogenic Hypocholesterolaemic Lipid Disorders and Apolipoprotein B Metabolism
- A. Hooper, F. V. van Bockxmeer, J. Burnett
- Biology, MedicineCritical reviews in clinical laboratory sciences
- 1 January 2005
The role of apoB in lipoprotein metabolism is examined and the key biochemical, clinical, metabolic and genetic features of the monogenic hypocholesterolaemic lipid disorders affecting apo B metabolism are explored.
Common and rare ABCA1 variants affecting plasma HDL cholesterol.
It is suggested that common amino acid variation in ABCA1 is a determinant of plasma HDL cholesterol in the general population.
Lipid disorders and mutations in the APOB gene.
- A. J. Whitfield, P. Barrett, F. V. van Bockxmeer, J. Burnett
- Biology, MedicineClinical Chemistry
- 1 October 2004
Missense mutations in the LDL-receptor-binding domain of apoB cause familial ligand-defective apo B-100, characterized by hypercholesterolemia and premature coronary artery disease, and naturally occurring mutations reveal key domains in APoB and demonstrate how monogenic dyslipidemias can provide insight into biologically important mechanisms.
Familial hypercholesterolaemia: a model of care for Australasia.
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution
- K. Liyanage, J. Burnett, A. Hooper, F. V. van Bockxmeer
- BiologyCritical reviews in clinical laboratory sciences
- 1 February 2011
The epidemiology of FH is reviewed to attempt to draw inferences at a DNA level of inherited hypercholesterolemia of contemporary people that may contribute to the understanding of human population history and adaptation that resulted in the massive demographic expansion following the adoption of agriculture in the Neolithic period.