Etiology
Wiegman A,
Greber-Platzer S,
Ali S,
Reijman MD,
Brinton EA,
Charng MJ,
Srinivasan S,
Baker-Smith C,
Baum S,
Brothers JA,
Hartz J,
Moriarty PM,
Mendell J,
Bihorel S,
Banerjee P,
George RT,
Hirshberg B,
Pordy R
Circulation
2024 Jan 30;149(5):343-353.
Epub 2023 Oct 20
doi: 10.1161/CIRCULATIONAHA.123.065529.
PMID: 37860863Free PMC Article
Raal F,
Durst R,
Bi R,
Talloczy Z,
Maheux P,
Lesogor A,
Kastelein JJP;
ORION-5 Study Investigators
Circulation
2024 Jan 30;149(5):354-362.
Epub 2023 Oct 18
doi: 10.1161/CIRCULATIONAHA.122.063460.
PMID: 37850379Free PMC Article
Liberis A,
Petousis S,
Tsikouras P
Curr Pharm Des
2021;27(36):3804-3807.
doi: 10.2174/1381612827666210421103245.
PMID: 33882801
Bertolini S,
Calandra S,
Arca M,
Averna M,
Catapano AL,
Tarugi P;
Italian Study Group of Homozygous Familial Hypercholesterolemia
Atherosclerosis
2020 Nov;312:72-78.
Epub 2020 Sep 9
doi: 10.1016/j.atherosclerosis.2020.08.027.
PMID: 32977124
Raal FJ,
Rosenson RS,
Reeskamp LF,
Hovingh GK,
Kastelein JJP,
Rubba P,
Ali S,
Banerjee P,
Chan KC,
Gipe DA,
Khilla N,
Pordy R,
Weinreich DM,
Yancopoulos GD,
Zhang Y,
Gaudet D;
ELIPSE HoFH Investigators
N Engl J Med
2020 Aug 20;383(8):711-720.
doi: 10.1056/NEJMoa2004215.
PMID: 32813947
Diagnosis
Wiegman A,
Greber-Platzer S,
Ali S,
Reijman MD,
Brinton EA,
Charng MJ,
Srinivasan S,
Baker-Smith C,
Baum S,
Brothers JA,
Hartz J,
Moriarty PM,
Mendell J,
Bihorel S,
Banerjee P,
George RT,
Hirshberg B,
Pordy R
Circulation
2024 Jan 30;149(5):343-353.
Epub 2023 Oct 20
doi: 10.1161/CIRCULATIONAHA.123.065529.
PMID: 37860863Free PMC Article
Cuchel M,
Raal FJ,
Hegele RA,
Al-Rasadi K,
Arca M,
Averna M,
Bruckert E,
Freiberger T,
Gaudet D,
Harada-Shiba M,
Hudgins LC,
Kayikcioglu M,
Masana L,
Parhofer KG,
Roeters van Lennep JE,
Santos RD,
Stroes ESG,
Watts GF,
Wiegman A,
Stock JK,
Tokgözoğlu LS,
Catapano AL,
Ray KK
Eur Heart J
2023 Jul 1;44(25):2277-2291.
doi: 10.1093/eurheartj/ehad197.
PMID: 37130090Free PMC Article
Nohara A,
Tada H,
Ogura M,
Okazaki S,
Ono K,
Shimano H,
Daida H,
Dobashi K,
Hayashi T,
Hori M,
Matsuki K,
Minamino T,
Yokoyama S,
Harada-Shiba M
J Atheroscler Thromb
2021 Jul 1;28(7):665-678.
Epub 2021 Apr 18
doi: 10.5551/jat.RV17050.
PMID: 33867421Free PMC Article
Bertolini S,
Calandra S,
Arca M,
Averna M,
Catapano AL,
Tarugi P;
Italian Study Group of Homozygous Familial Hypercholesterolemia
Atherosclerosis
2020 Nov;312:72-78.
Epub 2020 Sep 9
doi: 10.1016/j.atherosclerosis.2020.08.027.
PMID: 32977124
Ziajka PE
Am J Manag Care
2013 Nov;19(13 Suppl):s.
PMID: 24494590
Therapy
Raal F,
Durst R,
Bi R,
Talloczy Z,
Maheux P,
Lesogor A,
Kastelein JJP;
ORION-5 Study Investigators
Circulation
2024 Jan 30;149(5):354-362.
Epub 2023 Oct 18
doi: 10.1161/CIRCULATIONAHA.122.063460.
PMID: 37850379Free PMC Article
Cuchel M,
Raal FJ,
Hegele RA,
Al-Rasadi K,
Arca M,
Averna M,
Bruckert E,
Freiberger T,
Gaudet D,
Harada-Shiba M,
Hudgins LC,
Kayikcioglu M,
Masana L,
Parhofer KG,
Roeters van Lennep JE,
Santos RD,
Stroes ESG,
Watts GF,
Wiegman A,
Stock JK,
Tokgözoğlu LS,
Catapano AL,
Ray KK
Eur Heart J
2023 Jul 1;44(25):2277-2291.
doi: 10.1093/eurheartj/ehad197.
PMID: 37130090Free PMC Article
Egli M,
Manoharan M
Nucleic Acids Res
2023 Apr 11;51(6):2529-2573.
doi: 10.1093/nar/gkad067.
PMID: 36881759Free PMC Article
Med Lett Drugs Ther
2021 May 3;63(1623):66-67.
PMID: 33976097
Raal FJ,
Rosenson RS,
Reeskamp LF,
Hovingh GK,
Kastelein JJP,
Rubba P,
Ali S,
Banerjee P,
Chan KC,
Gipe DA,
Khilla N,
Pordy R,
Weinreich DM,
Yancopoulos GD,
Zhang Y,
Gaudet D;
ELIPSE HoFH Investigators
N Engl J Med
2020 Aug 20;383(8):711-720.
doi: 10.1056/NEJMoa2004215.
PMID: 32813947
Prognosis
Tromp TR,
Hartgers ML,
Hovingh GK,
Vallejo-Vaz AJ,
Ray KK,
Soran H,
Freiberger T,
Bertolini S,
Harada-Shiba M,
Blom DJ,
Raal FJ,
Cuchel M;
Homozygous Familial Hypercholesterolaemia International Clinical Collaborators
Lancet
2022 Feb 19;399(10326):719-728.
Epub 2022 Jan 28
doi: 10.1016/S0140-6736(21)02001-8.
PMID: 35101175Free PMC Article
Di Taranto MD,
Giacobbe C,
Palma D,
Iannuzzo G,
Gentile M,
Calcaterra I,
Guardamagna O,
Auricchio R,
Di Minno MND,
Fortunato G
Clin Genet
2021 Nov;100(5):529-541.
Epub 2021 Aug 3
doi: 10.1111/cge.14036.
PMID: 34297352Free PMC Article
Nohara A,
Tada H,
Ogura M,
Okazaki S,
Ono K,
Shimano H,
Daida H,
Dobashi K,
Hayashi T,
Hori M,
Matsuki K,
Minamino T,
Yokoyama S,
Harada-Shiba M
J Atheroscler Thromb
2021 Jul 1;28(7):665-678.
Epub 2021 Apr 18
doi: 10.5551/jat.RV17050.
PMID: 33867421Free PMC Article
Ziajka PE
Am J Manag Care
2013 Nov;19(13 Suppl):s.
PMID: 24494590
Cesur Y,
Caksen H
Indian Pediatr
2001 Mar;38(3):305-6.
PMID: 11255318
Clinical prediction guides
Santos RD,
Wiegman A,
Caprio S,
Cariou B,
Averna M,
Poulouin Y,
Scemama M,
Manvelian G,
Garon G,
Daniels S
JAMA Pediatr
2024 Mar 1;178(3):283-293.
doi: 10.1001/jamapediatrics.2023.6477.
PMID: 38315470Free PMC Article
Raal F,
Durst R,
Bi R,
Talloczy Z,
Maheux P,
Lesogor A,
Kastelein JJP;
ORION-5 Study Investigators
Circulation
2024 Jan 30;149(5):354-362.
Epub 2023 Oct 18
doi: 10.1161/CIRCULATIONAHA.122.063460.
PMID: 37850379Free PMC Article
Di Taranto MD,
Giacobbe C,
Palma D,
Iannuzzo G,
Gentile M,
Calcaterra I,
Guardamagna O,
Auricchio R,
Di Minno MND,
Fortunato G
Clin Genet
2021 Nov;100(5):529-541.
Epub 2021 Aug 3
doi: 10.1111/cge.14036.
PMID: 34297352Free PMC Article
Liberis A,
Petousis S,
Tsikouras P
Curr Pharm Des
2021;27(36):3804-3807.
doi: 10.2174/1381612827666210421103245.
PMID: 33882801
Nohara A,
Tada H,
Ogura M,
Okazaki S,
Ono K,
Shimano H,
Daida H,
Dobashi K,
Hayashi T,
Hori M,
Matsuki K,
Minamino T,
Yokoyama S,
Harada-Shiba M
J Atheroscler Thromb
2021 Jul 1;28(7):665-678.
Epub 2021 Apr 18
doi: 10.5551/jat.RV17050.
PMID: 33867421Free PMC Article