Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia,Journal of Paediatrics and Child Health

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Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia
Journal of Paediatrics and Child Health ( IF 1.6 ) Pub Date : 2021-08-13 , DOI: 10.1111/jpc.15700
Andrew C Martin _{1,

2} , Amanda J Hooper _{2,

3} , Richard Norman ₄ , Lan T Nguyen ₃ , John R Burnett _{2,

3,

5} , Damon A Bell _{2,

3,

5} , Tom Brett ₆ , Jacquie Garton-Smith ₇ , Jing Pang ₂ , Kristen J Nowak ₈ , Gerald F Watts _{2,

5}

Affiliation

Familial hypercholesterolaemia (FH) is a common and treatable cause of premature coronary artery disease. However, the majority of individuals with FH remain undiagnosed. This study investigated the feasibility, acceptability and cost-effectiveness of screening children aged 1–2 years for FH at the time of an immunisation.

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