Etiology
Lewek J,
Banach M
Curr Atheroscler Rep
2022 Jul;24(7):547-556.
Epub 2022 Apr 30
doi: 10.1007/s11883-022-01030-w.
PMID: 35499807
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
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
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
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
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
Therapy
Egli M,
Manoharan M
Nucleic Acids Res
2023 Apr 11;51(6):2529-2573.
doi: 10.1093/nar/gkad067.
PMID: 36881759Free PMC Article
Lewek J,
Banach M
Curr Atheroscler Rep
2022 Jul;24(7):547-556.
Epub 2022 Apr 30
doi: 10.1007/s11883-022-01030-w.
PMID: 35499807
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
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
Crooke ST,
Wang S,
Vickers TA,
Shen W,
Liang XH
Nat Biotechnol
2017 Mar;35(3):230-237.
Epub 2017 Feb 27
doi: 10.1038/nbt.3779.
PMID: 28244996
Prognosis
Tada H,
Kojima N,
Takamura M,
Kawashiri MA
Adv Clin Chem
2022;110:145-169.
Epub 2022 Aug 9
doi: 10.1016/bs.acc.2022.06.006.
PMID: 36210074
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
Ishigaki Y,
Kawagishi N,
Hasegawa Y,
Sawada S,
Katagiri H,
Satomi S,
Oikawa S
J Atheroscler Thromb
2019 Feb 1;26(2):121-127.
Epub 2018 Dec 15
doi: 10.5551/jat.RV17029.
PMID: 30555131Free PMC Article
Clinical prediction guides
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
D'Erasmo L,
Di Costanzo A,
Arca M
Curr Opin Lipidol
2020 Apr;31(2):56-61.
doi: 10.1097/MOL.0000000000000664.
PMID: 32011344
Jellinger PS,
Handelsman Y,
Rosenblit PD,
Bloomgarden ZT,
Fonseca VA,
Garber AJ,
Grunberger G,
Guerin CK,
Bell DSH,
Mechanick JI,
Pessah-Pollack R,
Wyne K,
Smith D,
Brinton EA,
Fazio S,
Davidson M
Endocr Pract
2017 Apr;23(Suppl 2):1-87.
doi: 10.4158/EP171764.APPGL.
PMID: 28437620