Publications by authors named "John R Burnett"

97Publications

Coronary artery disease and the risk-associated LPA variants, rs3798220 and rs10455872, in patients with suspected familial hypercholesterolaemia.

Clin Chim Acta 2020 Jul 16;510:211-215. Epub 2020 Jul 16.

School of Medicine, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2020.07.029DOI Listing
July 2020

Design, development and deployment of a web-based patient registry for rare genetic lipid disorders.

Pathology 2020 Jun 7;52(4):447-452. Epub 2020 Apr 7.

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine, University of Western Australia, Nedlands, WA, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2020.02.002DOI Listing
June 2020

An age-matched computed tomography angiographic study of coronary atherosclerotic plaques in patients with familial hypercholesterolaemia.

Atherosclerosis 2020 04 6;298:52-57. Epub 2020 Mar 6.

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.03.001DOI Listing
April 2020

Tangier disease: update for 2020.

Curr Opin Lipidol 2020 Apr;31(2):80-84

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network.

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http://dx.doi.org/10.1097/MOL.0000000000000669DOI Listing
April 2020

A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment.

Clin Genet 2020 02 9;97(2):257-263. Epub 2019 Oct 9.

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13648
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http://dx.doi.org/10.1111/cge.13648DOI Listing
February 2020

Effect of Lipoprotein(a) on the Diagnosis of Familial Hypercholesterolemia: Does It Make a Difference in the Clinic?

Clin Chem 2019 10 15;65(10):1258-1266. Epub 2019 Jul 15.

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia;

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http://dx.doi.org/10.1373/clinchem.2019.306738DOI Listing
October 2019

Update on the diagnosis, treatment and management of rare genetic lipid disorders.

Pathology 2019 Feb 28;51(2):193-201. Epub 2018 Dec 28.

School of Medicine, Faculty of Health & Medical Sciences, University of Western Australia, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network, Perth, WA, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2018.11.005DOI Listing
February 2019

Non-HDL-cholesterol and apolipoprotein B compared with LDL-cholesterol in atherosclerotic cardiovascular disease risk assessment.

Pathology 2019 Feb 27;51(2):148-154. Epub 2018 Dec 27.

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia; Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, PathWest Laboratory Medicine, Perth, WA, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00313025183059
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http://dx.doi.org/10.1016/j.pathol.2018.11.006DOI Listing
February 2019

Lipids and cardiovascular disease.

Pathology 2019 Feb 27;51(2):129-130. Epub 2018 Dec 27.

Departments of Medicine and Biochemistry, Schulich School of Medicine and Robarts Research Institute, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pathol.2018.12.001DOI Listing
February 2019

PCSK9 - A Journey to Cardiovascular Outcomes.

N Engl J Med 2018 11;379(22):2161-2162

From the School of Medicine, University of Western Australia, and the Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia.

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http://www.nejm.org/doi/10.1056/NEJMe1813758
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http://dx.doi.org/10.1056/NEJMe1813758DOI Listing
November 2018

The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.

Curr Atheroscler Rep 2018 05 19;20(6):31. Epub 2018 May 19.

School of Medicine, Royal Perth Hospital, University of Western Australia, GPO Box X2213, Perth, WA, 6847, Australia.

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http://dx.doi.org/10.1007/s11883-018-0731-0DOI Listing
May 2018

Parent-child genetic testing for familial hypercholesterolaemia in an Australian context.

J Paediatr Child Health 2018 07 6;54(7):741-747. Epub 2018 Apr 6.

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.13898DOI Listing
July 2018

A Comparative Analysis of Phenotypic Predictors of Mutations in Familial Hypercholesterolemia.

J Clin Endocrinol Metab 2018 04;103(4):1704-1714

School of Medicine, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1210/jc.2017-02622DOI Listing
April 2018

The role of patient registries for rare genetic lipid disorders.

Curr Opin Lipidol 2018 04;29(2):156-162

Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1097/MOL.0000000000000485DOI Listing
April 2018

Filiarial chyluria with nephrotic-range proteinuria and associated hypoalbuminaemia and hypogammaglobulinaemia secondary to bilateral lymphorenal fistulae.

BMJ Case Rep 2017 Oct 4;2017. Epub 2017 Oct 4.

Department of Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/bcr-2017-221114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652507PMC
October 2017

Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Glob Pediatr Health 2017 28;4:2333794X17715839. Epub 2017 Jun 28.

Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1177/2333794X17715839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495498PMC
June 2017

Clinical utility gene card for: Tangier disease.

Eur J Hum Genet 2017 06 24;25(7). Epub 2017 May 24.

Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.72DOI Listing
June 2017

Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.

BMJ Case Rep 2017 Apr 6;2017. Epub 2017 Apr 6.

Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia

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http://dx.doi.org/10.1136/bcr-2016-218825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534779PMC
April 2017

Documenting family history in children with hypercholesterolaemia: A lost opportunity.

J Paediatr Child Health 2017 May 3;53(5):470-473. Epub 2017 Jan 3.

Department of General Paediatrics, Princess Margaret Hospital for Children, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.13457DOI Listing
May 2017

Clinical utility gene card for: Sitosterolaemia.

Eur J Hum Genet 2017 04 28;25(4). Epub 2016 Dec 28.

Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386411PMC
April 2017

Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions.

J Clin Lipidol 2016 Nov - Dec;10(6):1329-1337.e3. Epub 2016 Aug 26.

School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2016.08.011DOI Listing
October 2017

High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency.

Atherosclerosis 2016 10 20;253:7-14. Epub 2016 Aug 20.

Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064856PMC
http://dx.doi.org/10.1016/j.atherosclerosis.2016.08.014DOI Listing
October 2016

ω-3 Fatty Acid Ethyl Esters Diminish Postprandial Lipemia in Familial Hypercholesterolemia.

J Clin Endocrinol Metab 2016 10 4;101(10):3732-3739. Epub 2016 Aug 4.

School of Medicine and Pharmacology (D.C.C., J.P., P.H.R.B., J.R.B., G.F.W.), Faculty of Engineering, Computing, and Mathematics (P.H.R.B.), and School of Surgery (F.M.v.B.), University of Western Australia, Perth, Western Australia 6847, Australia; Department of Clinical Biochemistry (D.R.S.), Royal Prince Alfred Hospital, Camperdown, New South Wales 2050, Australia; and Department of Clinical Biochemistry (J.R.B., F.M.v.B.), PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia 6000, Australia.

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http://dx.doi.org/10.1210/jc.2016-2217DOI Listing
October 2016

Interpretative comments specifically suggesting specialist referral increase the detection of familial hypercholesterolaemia.

Pathology 2016 Aug 18;48(5):463-6. Epub 2016 Jun 18.

Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia; Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2016.04.003DOI Listing
August 2016

Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.

J Clin Lipidol 2016 May-Jun;10(3):604-9. Epub 2016 Feb 16.

School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2016.01.006DOI Listing
October 2017

Progress in the care of common inherited atherogenic disorders of apolipoprotein B metabolism.

Nat Rev Endocrinol 2016 08 20;12(8):467-84. Epub 2016 May 20.

School of Medicine and Pharmacology, The University of Western Australia, PO Box X2213, Perth, Western Australia 6847, Australia.

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http://dx.doi.org/10.1038/nrendo.2016.69DOI Listing
August 2016

Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.

Clin Biochem 2016 Jun 23;49(9):720-722. Epub 2016 Feb 23.

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2016.02.008DOI Listing
June 2016

Lipoprotein lipase deficiency presenting with neonatal perianal abscesses.

BMJ Case Rep 2016 Jan 29;2016. Epub 2016 Jan 29.

School of Paediatrics and Child Health, University of Western Australia, Crawley, Western Australia, Australia Department of General Paediatrics, Princess Margaret Hospital for Children, Subiaco, Western Australia, Australia.

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http://dx.doi.org/10.1136/bcr-2015-212587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735387PMC
January 2016

Anacetrapib for the treatment of dyslipidaemia: the last bastion of the cholesteryl ester transfer protein inhibitors?

Expert Opin Pharmacother 2016 28;17(2):275-81. Epub 2015 Dec 28.

a Department of Clinical Biochemistry, PathWest Laboratory Medicine WA , Royal Perth Hospital and Fiona Stanley Hospital Network , Perth , Australia.

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http://dx.doi.org/10.1517/14656566.2016.1129402DOI Listing
June 2016

Finding the Therapeutic Sweet Spot: Using Naturally Occurring Human Variants to Inform Drug Design.

Circ Cardiovasc Genet 2015 Oct;8(5):637-9

From the Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia (J.R.B.); and School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia (J.R.B.); and Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, Ontario, Canada (R.A.H.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001219DOI Listing
October 2015

Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia.

Int J Cardiol 2015 Dec 21;201:633-8. Epub 2015 Aug 21.

School of Medicine and Pharmacology, University of Western Australlia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2015.08.146DOI Listing
December 2015

Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.

J Clin Endocrinol Metab 2015 Nov 31;100(11):E1484-90. Epub 2015 Aug 31.

Department of Clinical Biochemistry (A.J.H., L.H., K.R., F.M.v.B., J.R.B.), PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth WA 6000, Australia; School of Medicine and Pharmacology (A.J.H., D.C., P.H.R.B., J.R.B.), and School of Pathology and Laboratory Medicine (A.J.H., K.R.), University of Western Australia, Crawley WA 6009, Australia; Department of Radiology (J.H., S.S.), Royal Perth Hospital, Perth WA 6000, Australia; Medical Department II (K.G.P.), Grosshadern, University of Munich, 81377 Munich, Germany; and School of Surgery (F.M.v.B.), University of Western Australia, Crawley WA 6009, Australia.

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http://dx.doi.org/10.1210/jc.2015-2731DOI Listing
November 2015

Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

Free Radic Biol Med 2015 Nov 16;88(Pt A):59-62. Epub 2015 Jun 16.

Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1016/j.freeradbiomed.2015.05.044DOI Listing
November 2015

The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory.

Clin Chim Acta 2015 Aug 15;448:18-21. Epub 2015 Jun 15.

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.cca.2015.06.004DOI Listing
August 2015

SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.

Clin Chim Acta 2015 May 11;445. Epub 2015 Mar 11.

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital; University of Western Australia, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.03.001DOI Listing
May 2015

HDL particle size is a critical determinant of ABCA1-mediated macrophage cellular cholesterol export.

Circ Res 2015 Mar 14;116(7):1133-42. Epub 2015 Jan 14.

From the Centre for Vascular Research, University of New South Wales, Sydney, New South Wales, Australia (X.-M.D., M.-J.K., L.H., S.P.C., C.M.Q., K.-A.R); INSERM, UMR_1166, Research Institute of Cardiovascular Disease, Metabolism and Nutrition, Pitié-Salpétrière University Hospital, Paris, France (W.L.G., M.J.C., A.K.); Université Pierre et Marie Curie-Paris 6, Paris, France (W.L.G., M.J.C., A.K.); Division of Biopharmaceutics, Leiden Academic Centre for Drug Research, Leiden, The Netherlands (M.V.E.); Department of Immunology and Microbial Science, The Scripps Research Institute, La Jolla, CA (L.K.C.); Department of Clinical Biochemistry, Royal Perth Hospital, Perth, Western Australia, Australia (J.R.B.); School of Medicine and Pharmacology, University of Western Australia, Crawley, Western Australia, Australia (J.R.B.); Atherosclerosis Laboratory, ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia (M.K., L.K., W.J.); and Department of Cardiology, Concord Hospital, Sydney, New South Wales, Australia (L.K.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.305485DOI Listing
March 2015

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: an Australian experience.

Atherosclerosis 2015 Mar 23;239(1):93-100. Epub 2014 Dec 23.

Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2014.12.036DOI Listing
March 2015

Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.

Circ Res 2015 Jan;116(1):193-205

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA (A.J.H., J.R.B.), School of Medicine and Pharmacology (A.J.H., J.R.B., G.F.W.), School of Pathology and Laboratory Medicine (A.J.H), and Lipid Disorders Clinic, Cardiovascular Medicine (J.R.B., G.F.W), Royal Perth Hospital, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1161/CIRCRESAHA.116.304637DOI Listing
January 2015

Plasma cholesterol in adults with phenylketonuria.

Pathology 2015 Feb;47(2):134-7

1Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth 2School of Medicine and Pharmacology, University of Western Australia, Perth 3School of Pathology and Laboratory Medicine, University of Western Australia, Perth 4Department of Internal Medicine, Royal Perth Hospital, Perth 5School of Biomedical Science and CHIRI Biosciences Research Precinct, Curtin University, Bentley, WA, Australia.

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http://pdfs.journals.lww.com/pathologyrcpa/2015/02000/Plasma
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http://linkinghub.elsevier.com/retrieve/pii/S003130251630143
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http://dx.doi.org/10.1097/PAT.0000000000000210DOI Listing
February 2015

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.

Eur J Hum Genet 2015 Jun 22;23(6). Epub 2014 Oct 22.

Robarts Research Institute, London, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795065PMC
June 2015

Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.

Eur J Hum Genet 2015 Jun 22;23(6). Epub 2014 Oct 22.

Robarts Research Institute, London, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795071PMC
June 2015

Novel missense MTTP gene mutations causing abetalipoproteinemia.

Biochim Biophys Acta 2014 Oct 6;1842(10):1548-54. Epub 2014 Aug 6.

School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbalip.2014.08.001DOI Listing
October 2014

Lipoprotein apheresis and new therapies for severe familial hypercholesterolemia in adults and children.

Best Pract Res Clin Endocrinol Metab 2014 Jun 26;28(3):387-403. Epub 2013 Oct 26.

Lipid Disorders Clinic, Department of Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2013.10.004DOI Listing
June 2014

Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner.

Atherosclerosis 2014 Jun 14;234(2):469-72. Epub 2014 Apr 14.

School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia.

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http://ac.els-cdn.com/S0021915014001993/1-s2.0-S002191501400
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http://linkinghub.elsevier.com/retrieve/pii/S002191501400199
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http://dx.doi.org/10.1016/j.atherosclerosis.2014.04.002DOI Listing
June 2014

Update on primary hypobetalipoproteinemia.

Curr Atheroscler Rep 2014 Jul;16(7):423

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Wellington Street, GPO Box X2213, Perth, WA, 6847, Australia.

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http://link.springer.com/content/pdf/10.1007/s11883-014-0423
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http://link.springer.com/10.1007/s11883-014-0423-3
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http://dx.doi.org/10.1007/s11883-014-0423-3DOI Listing
July 2014

A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic.

Ann Clin Biochem 2014 Sep 18;51(Pt 5):615-8. Epub 2014 Mar 18.

Lipid Disorders Clinic, Royal Perth Hospital, Perth, Australia School of Medicine and Pharmacology, University of Western Australia, Royal Perth Hospital, Perth, Australia Department of Internal Medicine, Royal Perth Hospital, Perth, Australia

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http://dx.doi.org/10.1177/0004563214527067DOI Listing
September 2014

Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.

J Am Coll Cardiol 2014 Jun 12;63(22):2365-73. Epub 2014 Mar 12.

Chemical Pathology Division of Clinical Laboratory Sciences, MRC Cape Heart Group, University of Cape Town Health Science Faculty, Cape Town, South Africa.

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http://dx.doi.org/10.1016/j.jacc.2014.02.538DOI Listing
June 2014

Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.

Ann Clin Biochem 2014 Jul 3;51(Pt 4):485-9. Epub 2014 Mar 3.

Department of Clinical Biochemistry, Path West Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia School of Medicine & Pharmacology, University of Western Australia, Perth, Australia

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http://dx.doi.org/10.1177/0004563214525767DOI Listing
July 2014

Differential disruption of blood-brain barrier in severe traumatic brain injury.

Neurocrit Care 2014 Apr;20(2):209-16

Intensive Care Unit, Fremantle Hospital, PO Box 480, Fremantle, WA, 6959, Australia,

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http://dx.doi.org/10.1007/s12028-013-9933-zDOI Listing
April 2014

Running interference to lower cholesterol.

Lancet 2014 Jan 3;383(9911):10-12. Epub 2013 Oct 3.

University of Western Australia, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA 6847, Australia.

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http://dx.doi.org/10.1016/S0140-6736(13)61910-8DOI Listing
January 2014

Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia.

Clin Chim Acta 2013 Jun 13;421:121-5. Epub 2013 Mar 13.

Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.cca.2013.03.004DOI Listing
June 2013

Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia.

Clin Chim Acta 2013 Jun 6;422:21-5. Epub 2013 Apr 6.

Department of Clinical Biochemistry, Royal Perth Hospital, Perth, WA, Australia.

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http://dx.doi.org/10.1016/j.cca.2013.03.027DOI Listing
June 2013

Protein kinase C controls vesicular transport and secretion of apolipoprotein E from primary human macrophages.

J Biol Chem 2013 Feb 3;288(7):5186-97. Epub 2013 Jan 3.

Centre for Vascular Research, School of Medical Sciences, University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.1074/jbc.M112.428961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576123PMC
February 2013

Recent developments in the genetics of LDL deficiency.

Curr Opin Lipidol 2013 Apr;24(2):111-5

Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Australia.

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http://dx.doi.org/10.1097/MOL.0b013e32835ca0d9DOI Listing
April 2013

Anti-PCSK9 therapies for the treatment of hypercholesterolemia.

Expert Opin Biol Ther 2013 Mar 17;13(3):429-35. Epub 2012 Dec 17.

Royal Perth Hospital, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Perth, Western Australia.

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http://dx.doi.org/10.1517/14712598.2012.748743DOI Listing
March 2013

Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia.

Vasc Health Risk Manag 2012 28;8:651-9. Epub 2012 Nov 28.

Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.

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http://dx.doi.org/10.2147/VHRM.S28581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513909PMC
May 2013

Critical Reviews in Clinical Laboratory Sciences: parting comments from the Editor-in-Chief.

Authors:
John R Burnett

Crit Rev Clin Lab Sci 2012 Sep-Dec;49(5-6):167. Epub 2012 Dec 6.

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http://dx.doi.org/10.3109/10408363.2012.751727DOI Listing
September 2013

Opportunistic screening for familial hypercholesterolaemia via a community laboratory.

Ann Clin Biochem 2012 Nov 21;49(Pt 6):534-7. Epub 2012 Sep 21.

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, WA 6847, Australia.

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http://dx.doi.org/10.1258/acb.2012.012002DOI Listing
November 2012

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Atherosclerosis 2012 Oct 27;224(2):430-4. Epub 2012 Jul 27.

Cardiovascular Genetics Laboratory, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.07.030DOI Listing
October 2012

Dalcetrapib , a cholesteryl ester transfer protein modulator.

Expert Opin Investig Drugs 2012 Sep 24;21(9):1427-32. Epub 2012 Jun 24.

Royal Perth Hospital, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Perth, Western Australia.

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http://dx.doi.org/10.1517/13543784.2012.699040DOI Listing
September 2012

Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB).

Eur J Hum Genet 2012 Aug 16;20(8). Epub 2012 May 16.

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400740PMC
August 2012

Clinical utility gene card for: Abetalipoproteinaemia.

Eur J Hum Genet 2012 Aug 29;20(8). Epub 2012 Feb 29.

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400737PMC
August 2012

A model of care for familial hypercholesterolaemia: key role for clinical biochemistry.

Clin Biochem Rev 2012 Feb;33(1):25-31

Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284341PMC
February 2012

Screening for familial hypercholesterolaemia.

Pathology 2012 Feb;44(2):122-8

Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1097/PAT.0b013e32834efa07DOI Listing
February 2012

Screening for lipid disorders.

Pathology 2012 Feb;44(2):115-21

Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1097/PAT.0b013e32834f90feDOI Listing
February 2012

Anacetrapib, a cholesteryl ester transfer protein inhibitor.

Expert Opin Investig Drugs 2012 Jan 22;21(1):103-9. Epub 2011 Dec 22.

Royal Perth Hospital, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Perth, Western Australia.

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http://dx.doi.org/10.1517/13543784.2012.642499DOI Listing
January 2012

Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.

Liver Transpl 2011 Dec;17(12):1481-4

Department of Internal Medicine, Swan District Hospital, Middle Swan, Western Australia, Australia.

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http://dx.doi.org/10.1002/lt.22407DOI Listing
December 2011

Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.

Crit Rev Clin Lab Sci 2011 Jan-Feb;48(1):1-18

School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia.

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http://dx.doi.org/10.3109/10408363.2011.565585DOI Listing
September 2011

Genetic determinants of hepatic steatosis in man.

J Lipid Res 2011 Apr 18;52(4):593-617. Epub 2011 Jan 18.

Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1194/jlr.R008896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053205PMC
April 2011

Mipomersen, an antisense apolipoprotein B synthesis inhibitor.

Expert Opin Investig Drugs 2011 Feb 6;20(2):265-72. Epub 2011 Jan 6.

Royal Perth Hospital, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Perth, Western Australia.

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http://dx.doi.org/10.1517/13543784.2011.547471DOI Listing
February 2011

A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology.

Heart Lung Circ 2010 Jul 3;19(7):419-22. Epub 2010 Apr 3.

Lipid Disorders Clinic, Department of Internal Medicine, Royal Perth Hospital, WA 6847, Australia.

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http://dx.doi.org/10.1016/j.hlc.2010.02.002DOI Listing
July 2010

Pancreatitis in a child with lipemia due to novel lipoprotein lipase mutations.

J Pediatr Gastroenterol Nutr 2010 Apr;50(4):457-9

Department of Gastroenterology, Women's & Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1097/MPG.0b013e3181b64407DOI Listing
April 2010

Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency.

Curr Opin Mol Ther 2009 Dec;11(6):681-91

Royal Perth Hospital, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Wellington Street, GPO Box X2213, Perth, WA 6847, Australia.

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December 2009

Extreme hyperalphalipoproteinaemia in a patient with a solitary paraspinal lipoma.

Ann Clin Biochem 2010 Jan 25;47(Pt 1):90-3. Epub 2009 Nov 25.

Department of Chemical Pathology, Middlemore Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1258/acb.2009.009168DOI Listing
January 2010

Vitamin E supplementation and hepatic drug metabolism in humans.

J Cardiovasc Pharmacol 2009 Dec;54(6):491-6

Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1097/FJC.0b013e3181bfae18DOI Listing
December 2009

A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.

Clin Chim Acta 2009 Nov 31;409(1-2):136-9. Epub 2009 Aug 31.

Department of Core Clinical Pathology & Biochemistry, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.cca.2009.08.017DOI Listing
November 2009

Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia.

Ann Clin Biochem 2009 Sep 1;46(Pt 5):420-2. Epub 2009 Jun 1.

Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA 6847, Australia.

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http://dx.doi.org/10.1258/acb.2009.009004DOI Listing
September 2009

Extreme diabetic lipaemia associated with a novel lipoprotein lipase gene mutation.

Clin Chim Acta 2009 Aug 15;406(1-2):167-9. Epub 2009 May 15.

Southern Adelaide Diabetes and Endocrine Services, Southern Adelaide Health Services, Adelaide, Australia.

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http://dx.doi.org/10.1016/j.cca.2009.05.003DOI Listing
August 2009

A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria.

Clin Chim Acta 2009 May 21;403(1-2):254-6. Epub 2009 Mar 21.

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.cca.2009.03.032DOI Listing
May 2009

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.

Clin Chim Acta 2008 Dec 13;398(1-2):152-4. Epub 2008 Aug 13.

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.cca.2008.08.007DOI Listing
December 2008

Vitamin E in human health and disease.

Crit Rev Clin Lab Sci 2008 ;45(5):417-50

School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia.

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http://dx.doi.org/10.1080/10408360802118625DOI Listing
September 2008

Phenylketonuria: an inborn error of phenylalanine metabolism.

Clin Biochem Rev 2008 Feb;29(1):31-41

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, WA 6847, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317PMC
February 2008

Common and rare gene variants affecting plasma LDL cholesterol.

Clin Biochem Rev 2008 Feb;29(1):11-26

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423314PMC
February 2008

HDL revisited: new opportunities for managing dyslipoproteinaemia and cardiovascular disease.

Clin Biochem Rev 2004 Feb;25(1):7-18

Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, WA, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1853365PMC
February 2004

Lipids, lipoproteins, atherosclerosis and cardiovascular disease.

Authors:
John R Burnett

Clin Biochem Rev 2004 Feb;25(1)

Department of Core Clinical Pathology & Biochemistry, Royal Perth Hospital, Perth, WA, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1853363PMC
February 2004

Estimating LDL ApoB: infomania or clinical advance?

Clin Chem 2008 May;54(5):782-4

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http://dx.doi.org/10.1373/clinchem.2008.104505DOI Listing
May 2008

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

Ann Clin Biochem 2008 Mar;45(Pt 2):170-6

School of Surgery and Pathology, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1258/acb.2007.007077DOI Listing
March 2008

Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia.

Clin Chim Acta 2008 Apr 26;390(1-2):152-5. Epub 2008 Jan 26.

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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http://dx.doi.org/10.1016/j.cca.2008.01.021DOI Listing
April 2008

Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria.

Authors:
John R Burnett

IDrugs 2007 Nov;10(11):805-13

Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine & Pharmacology, University of Western Australia, Perth, WA 6847, Australia.

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November 2007

Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology.

Heart Lung Circ 2008 Oct 1;17(5):411-3. Epub 2007 Aug 1.

Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia.

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http://dx.doi.org/10.1016/j.hlc.2007.06.005DOI Listing
October 2008

MTP inhibition as a treatment for dyslipidaemias: time to deliver or empty promises?

Expert Opin Ther Targets 2007 Feb;11(2):181-9

PathWest Laboratory Medicine, Department of Core Clinical Pathology & Biochemistry, Royal Perth Hospital, Wellington Street Campus, GPO Box X2213, Perth, WA 6847, Australia.

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http://dx.doi.org/10.1517/14728222.11.2.181DOI Listing
February 2007