Etiology
Abifadel M,
Boileau C
J Intern Med
2023 Feb;293(2):144-165.
Epub 2022 Oct 17
doi: 10.1111/joim.13577.
PMID: 36196022Free PMC Article
Zubielienė K,
Valterytė G,
Jonaitienė N,
Žaliaduonytė D,
Zabiela V
Medicina (Kaunas)
2022 Nov 17;58(11)
doi: 10.3390/medicina58111665.
PMID: 36422206Free 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
Krasi G,
Bushati V,
Precone V,
Cortese B,
Agostini F,
Tezzele S,
Baglivo M,
Cecchin S,
Aquilanti B,
Velluti V,
Matera G,
Gagliardi L,
Miggiano GAD,
Bertelli M
Acta Biomed
2019 Sep 30;90(10-S):47-49.
doi: 10.23750/abm.v90i10-S.8757.
PMID: 31577253Free PMC Article
Benito-Vicente A,
Uribe KB,
Jebari S,
Galicia-Garcia U,
Ostolaza H,
Martin C
Int J Mol Sci
2018 Nov 1;19(11)
doi: 10.3390/ijms19113426.
PMID: 30388787Free PMC Article
Diagnosis
Abifadel M,
Boileau C
J Intern Med
2023 Feb;293(2):144-165.
Epub 2022 Oct 17
doi: 10.1111/joim.13577.
PMID: 36196022Free PMC Article
Bredefeld C,
Hussain MM,
Averna M,
Black DD,
Brin MF,
Burnett JR,
Charrière S,
Cuerq C,
Davidson NO,
Deckelbaum RJ,
Goldberg IJ,
Granot E,
Hegele RA,
Ishibashi S,
Karmally W,
Levy E,
Moulin P,
Okazaki H,
Poinsot P,
Rader DJ,
Takahashi M,
Tarugi P,
Traber MG,
Di Filippo M,
Peretti N
J Clin Lipidol
2022 Nov-Dec;16(6):797-812.
Epub 2022 Sep 29
doi: 10.1016/j.jacl.2022.08.009.
PMID: 36243606
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
Defesche JC,
Gidding SS,
Harada-Shiba M,
Hegele RA,
Santos RD,
Wierzbicki AS
Nat Rev Dis Primers
2017 Dec 7;3:17093.
doi: 10.1038/nrdp.2017.93.
PMID: 29219151
Singh S,
Bittner V
Curr Atheroscler Rep
2015;17(2):482.
doi: 10.1007/s11883-014-0482-5.
PMID: 25612857
Therapy
Pieroni M,
Moon JC,
Arbustini E,
Barriales-Villa R,
Camporeale A,
Vujkovac AC,
Elliott PM,
Hagege A,
Kuusisto J,
Linhart A,
Nordbeck P,
Olivotto I,
Pietilä-Effati P,
Namdar M
J Am Coll Cardiol
2021 Feb 23;77(7):922-936.
doi: 10.1016/j.jacc.2020.12.024.
PMID: 33602475
van der Veen SJ,
Hollak CEM,
van Kuilenburg ABP,
Langeveld M
J Inherit Metab Dis
2020 Sep;43(5):908-921.
Epub 2020 Mar 2
doi: 10.1002/jimd.12228.
PMID: 32083331Free PMC Article
Defesche JC,
Gidding SS,
Harada-Shiba M,
Hegele RA,
Santos RD,
Wierzbicki AS
Nat Rev Dis Primers
2017 Dec 7;3:17093.
doi: 10.1038/nrdp.2017.93.
PMID: 29219151
Bouhairie VE,
Goldberg AC
Cardiol Clin
2015 May;33(2):169-79.
doi: 10.1016/j.ccl.2015.01.001.
PMID: 25939291Free PMC Article
Singh S,
Bittner V
Curr Atheroscler Rep
2015;17(2):482.
doi: 10.1007/s11883-014-0482-5.
PMID: 25612857
Prognosis
Mason E,
Hindmarch CCT,
Dunham-Snary KJ
Endocrinol Diabetes Metab
2023 Jan;6(1):e385.
Epub 2022 Oct 27
doi: 10.1002/edm2.385.
PMID: 36300606Free PMC Article
Weinreb NJ,
Goker-Alpan O,
Kishnani PS,
Longo N,
Burrow TA,
Bernat JA,
Gupta P,
Henderson N,
Pedro H,
Prada CE,
Vats D,
Pathak RR,
Wright E,
Ficicioglu C
Mol Genet Metab
2022 May;136(1):4-21.
Epub 2022 Mar 9
doi: 10.1016/j.ymgme.2022.03.001.
PMID: 35367141
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
Bernardes TP,
Foresto RD,
Kirsztajn GM
Rev Assoc Med Bras (1992)
2020 Jan 13;66Suppl 1(Suppl 1):s10-s16.
doi: 10.1590/1806-9282.66.S1.10.
PMID: 31939530
Platt FM,
d'Azzo A,
Davidson BL,
Neufeld EF,
Tifft CJ
Nat Rev Dis Primers
2018 Oct 1;4(1):27.
doi: 10.1038/s41572-018-0025-4.
PMID: 30275469
Clinical prediction guides
Weinreb NJ,
Goker-Alpan O,
Kishnani PS,
Longo N,
Burrow TA,
Bernat JA,
Gupta P,
Henderson N,
Pedro H,
Prada CE,
Vats D,
Pathak RR,
Wright E,
Ficicioglu C
Mol Genet Metab
2022 May;136(1):4-21.
Epub 2022 Mar 9
doi: 10.1016/j.ymgme.2022.03.001.
PMID: 35367141
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
Boot CS,
Luvai A,
Neely RDG
Crit Rev Clin Lab Sci
2020 Nov;57(7):458-469.
Epub 2020 Apr 7
doi: 10.1080/10408363.2020.1745142.
PMID: 32255405
Hegele RA,
Ginsberg HN,
Chapman MJ,
Nordestgaard BG,
Kuivenhoven JA,
Averna M,
Borén J,
Bruckert E,
Catapano AL,
Descamps OS,
Hovingh GK,
Humphries SE,
Kovanen PT,
Masana L,
Pajukanta P,
Parhofer KG,
Raal FJ,
Ray KK,
Santos RD,
Stalenhoef AF,
Stroes E,
Taskinen MR,
Tybjærg-Hansen A,
Watts GF,
Wiklund O;
European Atherosclerosis Society Consensus Panel
Lancet Diabetes Endocrinol
2014 Aug;2(8):655-66.
Epub 2013 Dec 23
doi: 10.1016/S2213-8587(13)70191-8.
PMID: 24731657Free PMC Article
Kousi M,
Lehesjoki AE,
Mole SE
Hum Mutat
2012 Jan;33(1):42-63.
Epub 2011 Nov 16
doi: 10.1002/humu.21624.
PMID: 21990111