Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
Cuchel, Marina, Bruckert, Eric, Ginsberg, Henry N, Raal, Frederick J, Santos, Raul D, Hegele, Robert A, Kuivenhoven, Jan Albert, Nordestgaard, Børge G, Descamps, Olivier S, Steinhagen-Thiessen, Elisabeth, Tybjærg-Hansen, Anne, Watts, Gerald F, Averna, Maurizio, Boileau, Catherine, Borén, Jan, Catapano, Alberico L, Defesche, Joep C, Hovingh, G Kees, Humphries, Steve E, Kovanen, Petri T, Masana, Luis, Pajukanta, Päivi, Parhofer, Klaus G, Ray, Kausik K, Stalenhoef, Anton F H, Stroes, Erik, Taskinen, Marja-Riitta, Wiegman, Albert, Wiklund, Olov, Chapman, M John
Published in European heart journal (21.08.2014)
Published in European heart journal (21.08.2014)
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Published in Atherosclerosis (01.07.2015)
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The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia – A post-hoc analysis of a Phase 3, single-arm, open-label trial
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Published in Atherosclerosis (01.06.2015)
Published in Atherosclerosis (01.06.2015)
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Cholesterol efflux capacity inversely correlates with HDL cholesterol fractional catabolic rate
Hancock-Cerutti, W, Valentini, S, Liu, J, Billheimer, J.T, Millar, J.S, Rader, D.J, Cuchel, M
Published in Atherosclerosis (01.07.2015)
Published in Atherosclerosis (01.07.2015)
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In hyperalphalipoproteinemic subjects, the presence of coronary artery disease is associated with marked changes in the HDL phosphosphingolipidome
Hancock-Cerutti, W, Lhomme, M, Dauteuille, C, Lecocq, S, Chapman, J, Rader, D, Kontush, A, Cuchel, M
Published in Atherosclerosis (01.08.2014)
Published in Atherosclerosis (01.08.2014)
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Mutations in abca1 are associated with enhanced beta-cell secretory capacity in humans
Rickels, M, Goeser, E, Fuller, C, Lord, C, Bowler, A, Doliba, N, Hegele, R, Cuchel, M
Published in Atherosclerosis (01.08.2014)
Published in Atherosclerosis (01.08.2014)
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Coronary artery disease-protective A43T variant in APOC3 alters circulating ApoC-III levels in vivo
Khetarpal, S, Varshini, A, Larach, D, Tabita-Martinez, J, McParland, J, McCoy, M, Rodrigues, A, Kiss, D, Zanoni, P, Mucksavage, M, Millar, J, Cuchel, M, Lund-Katz, S, Phillips, M, Kathiresan, S, Rader, D
Published in Atherosclerosis (01.07.2015)
Published in Atherosclerosis (01.07.2015)
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A loss-of-function mutation in scarb1 severely impairs sr-bi processing and activity in humans
Zanoni, P, Larach, D.B, Khetarpal, S.A, Hancock-Cerutti, W.F, Peloso, G.M, Rodrigues, A, Tohyama, J, Billheimer, J.T, Kathiresan, S, Cuchel, M, Rader, D.J
Published in Atherosclerosis (01.08.2014)
Published in Atherosclerosis (01.08.2014)
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A deleterious mutation in scarb1 significantly alters HDL level, composition, and biological function in humans
Hancock-Cerutti, W, Zanoni, P, Lhomme, M, Lecocq, S, Dauteuille, C, Larach, D, Chapman, J, Cuchel, M, Rader, D, Kontush, A
Published in Atherosclerosis (01.08.2014)
Published in Atherosclerosis (01.08.2014)
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A genome-first approach to identify carriers of familial hypercholesterolemia-causing variants
Mami, S., Park, J., Bajaj, A., Vedamurthy, D., Risman, M., Rader, D., Cuchel, M.
Published in Atherosclerosis (01.08.2023)
Published in Atherosclerosis (01.08.2023)
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Impact of age on the metabolism of VLDL, IDL, and LDL apolipoprotein B-100 in men
Millar, J S, Lichtenstein, A H, Cuchel, M, Dolnikowski, G G, Hachey, D L, Cohn, J S, Schaefer, E J
Published in Journal of lipid research (01.06.1995)
Published in Journal of lipid research (01.06.1995)
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Treatment gaps in paediatric patients with homozygous familial hypercholesterolaemia
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Published in Atherosclerosis (01.08.2022)
Published in Atherosclerosis (01.08.2022)
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Clinical, demographic and genetic characteristics of homozygous familial hypercholesterolemia patients worldwide: Interim results from the hofh international clinical collaborators (HICC) registry
Hartgers, M., Cuchel, M., Hovingh, G.K., Blom, D.J., Raal, F.J.
Published in Atherosclerosis (01.08.2018)
Published in Atherosclerosis (01.08.2018)
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Diagnosis, treatment and cardiovascular outcomes in homozygous familial hypercholesterolaemia: A sex-specific analysis
Mulder, J., Tromp, T., Al-Khnifsawi, M., Bertolini†, S., Blom, D., Chlebus, K., Cuchel, M., Gallo, A., Hovingh, G.K., Kim, N.T., Long, J., Raal, F., Truong, T.H., Boersma, E., Van Lennep, J. Roeters
Published in Atherosclerosis (01.08.2023)
Published in Atherosclerosis (01.08.2023)
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HoFH is a life limiting condition: Clinical characteristics and lifespan of deceased HoFH patients in the HICC registry
Mulder, J., Tromp, T., Reijman, D., Al-Waili, K., Ayesh, M., Bertolini†, S., Blaha, V., Blom, D., Brothers, J., Cuchel, M., Francis, G., Genest, J., Harada-Shiba, M., Hovingh, G.K., Raal, F., Santos, R., Soran, H., Truong, T.H., Verma, I., Wang, L., Wiegman, A., Van Lennep, J. Roeters
Published in Atherosclerosis (01.08.2023)
Published in Atherosclerosis (01.08.2023)
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