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Review Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. 2008
Rahalkar AR, Hegele RA. · Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ont., Canada. · Mol Genet Metab. · Pubmed #18023224 No free full text.
Abstract: Monogenic disorders that cause abnormal levels of plasma cholesterol and triglycerides have received much attention due to their role in metabolic dysfunction and cardiovascular disease. While these disorders often present clinically during adulthood, some present most commonly in the pediatric population and can have serious consequences if misdiagnosed or untreated. This review provides an overview of monogenic lipid disorders that present with unusually high or low levels of plasma cholesterol and/or triglycerides during infancy, childhood and adolescence. Biochemical and genetic findings, clinical presentation and treatment options are discussed with an emphasis upon recent advances in our understanding and management of these monogenic disorders.
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Article An unusual case of severe hypertriglyceridemia and splenomegaly. free! 2008
Rahalkar AR, Wang J, Sirrs S, Dimmick J, Holmes D, Urquhart N, Hegele RA, Mattman A. · Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada. · Clin Chem. · Pubmed #18310149 links to free full text
This publication has no abstract.
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