Etiology
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Cannon CP,
Blazing MA,
Giugliano RP,
McCagg A,
White JA,
Theroux P,
Darius H,
Lewis BS,
Ophuis TO,
Jukema JW,
De Ferrari GM,
Ruzyllo W,
De Lucca P,
Im K,
Bohula EA,
Reist C,
Wiviott SD,
Tershakovec AM,
Musliner TA,
Braunwald E,
Califf RM;
IMPROVE-IT Investigators
N Engl J Med
2015 Jun 18;372(25):2387-97.
Epub 2015 Jun 3
doi: 10.1056/NEJMoa1410489.
PMID: 26039521
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
Wallentin L,
Becker RC,
Budaj A,
Cannon CP,
Emanuelsson H,
Held C,
Horrow J,
Husted S,
James S,
Katus H,
Mahaffey KW,
Scirica BM,
Skene A,
Steg PG,
Storey RF,
Harrington RA;
PLATO Investigators,
Freij A,
Thorsén M
N Engl J Med
2009 Sep 10;361(11):1045-57.
Epub 2009 Aug 30
doi: 10.1056/NEJMoa0904327.
PMID: 19717846
Diagnosis
Dunkle LM,
Kotloff KL,
Gay CL,
Áñez G,
Adelglass JM,
Barrat Hernández AQ,
Harper WL,
Duncanson DM,
McArthur MA,
Florescu DF,
McClelland RS,
Garcia-Fragoso V,
Riesenberg RA,
Musante DB,
Fried DL,
Safirstein BE,
McKenzie M,
Jeanfreau RJ,
Kingsley JK,
Henderson JA,
Lane DC,
Ruíz-Palacios GM,
Corey L,
Neuzil KM,
Coombs RW,
Greninger AL,
Hutter J,
Ake JA,
Smith K,
Woo W,
Cho I,
Glenn GM,
Dubovsky F;
2019nCoV-301 Study Group
N Engl J Med
2022 Feb 10;386(6):531-543.
Epub 2021 Dec 15
doi: 10.1056/NEJMoa2116185.
PMID: 34910859Free PMC Article
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Espay AJ,
Chen R
Continuum (Minneap Minn)
2013 Oct;19(5 Movement Disorders):1264-86.
doi: 10.1212/01.CON.0000436156.54532.1a.
PMID: 24092290
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
Therapy
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Cannon CP,
Blazing MA,
Giugliano RP,
McCagg A,
White JA,
Theroux P,
Darius H,
Lewis BS,
Ophuis TO,
Jukema JW,
De Ferrari GM,
Ruzyllo W,
De Lucca P,
Im K,
Bohula EA,
Reist C,
Wiviott SD,
Tershakovec AM,
Musliner TA,
Braunwald E,
Califf RM;
IMPROVE-IT Investigators
N Engl J Med
2015 Jun 18;372(25):2387-97.
Epub 2015 Jun 3
doi: 10.1056/NEJMoa1410489.
PMID: 26039521
Espay AJ,
Chen R
Continuum (Minneap Minn)
2013 Oct;19(5 Movement Disorders):1264-86.
doi: 10.1212/01.CON.0000436156.54532.1a.
PMID: 24092290
Wallentin L,
Becker RC,
Budaj A,
Cannon CP,
Emanuelsson H,
Held C,
Horrow J,
Husted S,
James S,
Katus H,
Mahaffey KW,
Scirica BM,
Skene A,
Steg PG,
Storey RF,
Harrington RA;
PLATO Investigators,
Freij A,
Thorsén M
N Engl J Med
2009 Sep 10;361(11):1045-57.
Epub 2009 Aug 30
doi: 10.1056/NEJMoa0904327.
PMID: 19717846
Prognosis
Dunkle LM,
Kotloff KL,
Gay CL,
Áñez G,
Adelglass JM,
Barrat Hernández AQ,
Harper WL,
Duncanson DM,
McArthur MA,
Florescu DF,
McClelland RS,
Garcia-Fragoso V,
Riesenberg RA,
Musante DB,
Fried DL,
Safirstein BE,
McKenzie M,
Jeanfreau RJ,
Kingsley JK,
Henderson JA,
Lane DC,
Ruíz-Palacios GM,
Corey L,
Neuzil KM,
Coombs RW,
Greninger AL,
Hutter J,
Ake JA,
Smith K,
Woo W,
Cho I,
Glenn GM,
Dubovsky F;
2019nCoV-301 Study Group
N Engl J Med
2022 Feb 10;386(6):531-543.
Epub 2021 Dec 15
doi: 10.1056/NEJMoa2116185.
PMID: 34910859Free PMC Article
El Sahly HM,
Baden LR,
Essink B,
Doblecki-Lewis S,
Martin JM,
Anderson EJ,
Campbell TB,
Clark J,
Jackson LA,
Fichtenbaum CJ,
Zervos M,
Rankin B,
Eder F,
Feldman G,
Kennelly C,
Han-Conrad L,
Levin M,
Neuzil KM,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Polakowski L,
Mascola JR,
Ledgerwood JE,
Graham BS,
August A,
Clouting H,
Deng W,
Han S,
Leav B,
Manzo D,
Pajon R,
Schödel F,
Tomassini JE,
Zhou H,
Miller J;
COVE Study Group
N Engl J Med
2021 Nov 4;385(19):1774-1785.
Epub 2021 Sep 22
doi: 10.1056/NEJMoa2113017.
PMID: 34551225Free PMC Article
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Masunaga Y,
Inoue T,
Yamoto K,
Fujisawa Y,
Sato Y,
Kawashima-Sonoyama Y,
Morisada N,
Iijima K,
Ohata Y,
Namba N,
Suzumura H,
Kuribayashi R,
Yamaguchi Y,
Yoshihashi H,
Fukami M,
Saitsu H,
Kagami M,
Ogata T
J Clin Endocrinol Metab
2020 Jan 1;105(1)
doi: 10.1210/clinem/dgz034.
PMID: 31544945
Saal HM,
Pagon RA,
Pepin MG
J Pediatr
1985 Nov;107(5):733-7.
doi: 10.1016/s0022-3476(85)80402-9.
PMID: 2414426
Clinical prediction guides
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Chang S,
Bartolomei MS
Dis Model Mech
2020 May 26;13(5)
doi: 10.1242/dmm.044123.
PMID: 32424032Free PMC Article
Masunaga Y,
Inoue T,
Yamoto K,
Fujisawa Y,
Sato Y,
Kawashima-Sonoyama Y,
Morisada N,
Iijima K,
Ohata Y,
Namba N,
Suzumura H,
Kuribayashi R,
Yamaguchi Y,
Yoshihashi H,
Fukami M,
Saitsu H,
Kagami M,
Ogata T
J Clin Endocrinol Metab
2020 Jan 1;105(1)
doi: 10.1210/clinem/dgz034.
PMID: 31544945
Giabicani E,
Netchine I,
Brioude F
Curr Opin Pediatr
2016 Aug;28(4):529-35.
doi: 10.1097/MOP.0000000000000379.
PMID: 27386972
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658