Etiology
Lenders M,
Nordbeck P,
Kurschat C,
Eveslage M,
Karabul N,
Kaufeld J,
Hennermann JB,
Patten M,
Cybulla M,
Müntze J,
Üçeyler N,
Liu D,
Das AM,
Sommer C,
Pogoda C,
Reiermann S,
Duning T,
Gaedeke J,
von Cossel K,
Blaschke D,
Brand SM,
Mann WA,
Kampmann C,
Muschol N,
Canaan-Kühl S,
Brand E
Eur Heart J Cardiovasc Pharmacother
2022 May 5;8(3):272-281.
doi: 10.1093/ehjcvp/pvab025.
PMID: 35512362
Bichet DG,
Aerts JM,
Auray-Blais C,
Maruyama H,
Mehta AB,
Skuban N,
Krusinska E,
Schiffmann R
Genet Med
2021 Jan;23(1):192-201.
Epub 2020 Sep 30
doi: 10.1038/s41436-020-00968-z.
PMID: 32994552Free PMC Article
McCafferty EH,
Scott LJ
Drugs
2019 Apr;79(5):543-554.
doi: 10.1007/s40265-019-01090-4.
PMID: 30875019Free PMC Article
Hughes DA,
Nicholls K,
Shankar SP,
Sunder-Plassmann G,
Koeller D,
Nedd K,
Vockley G,
Hamazaki T,
Lachmann R,
Ohashi T,
Olivotto I,
Sakai N,
Deegan P,
Dimmock D,
Eyskens F,
Germain DP,
Goker-Alpan O,
Hachulla E,
Jovanovic A,
Lourenco CM,
Narita I,
Thomas M,
Wilcox WR,
Bichet DG,
Schiffmann R,
Ludington E,
Viereck C,
Kirk J,
Yu J,
Johnson F,
Boudes P,
Benjamin ER,
Lockhart DJ,
Barlow C,
Skuban N,
Castelli JP,
Barth J,
Feldt-Rasmussen U
J Med Genet
2017 Apr;54(4):288-296.
Epub 2016 Nov 10
doi: 10.1136/jmedgenet-2016-104178.
PMID: 27834756Free PMC Article
Germain DP,
Hughes DA,
Nicholls K,
Bichet DG,
Giugliani R,
Wilcox WR,
Feliciani C,
Shankar SP,
Ezgu F,
Amartino H,
Bratkovic D,
Feldt-Rasmussen U,
Nedd K,
Sharaf El Din U,
Lourenco CM,
Banikazemi M,
Charrow J,
Dasouki M,
Finegold D,
Giraldo P,
Goker-Alpan O,
Longo N,
Scott CR,
Torra R,
Tuffaha A,
Jovanovic A,
Waldek S,
Packman S,
Ludington E,
Viereck C,
Kirk J,
Yu J,
Benjamin ER,
Johnson F,
Lockhart DJ,
Skuban N,
Castelli J,
Barth J,
Barlow C,
Schiffmann R
N Engl J Med
2016 Aug 11;375(6):545-55.
doi: 10.1056/NEJMoa1510198.
PMID: 27509102
Diagnosis
Lenders M,
Nordbeck P,
Kurschat C,
Eveslage M,
Karabul N,
Kaufeld J,
Hennermann JB,
Patten M,
Cybulla M,
Müntze J,
Üçeyler N,
Liu D,
Das AM,
Sommer C,
Pogoda C,
Reiermann S,
Duning T,
Gaedeke J,
von Cossel K,
Blaschke D,
Brand SM,
Mann WA,
Kampmann C,
Muschol N,
Canaan-Kühl S,
Brand E
Eur Heart J Cardiovasc Pharmacother
2022 May 5;8(3):272-281.
doi: 10.1093/ehjcvp/pvab025.
PMID: 35512362
Bichet DG,
Aerts JM,
Auray-Blais C,
Maruyama H,
Mehta AB,
Skuban N,
Krusinska E,
Schiffmann R
Genet Med
2021 Jan;23(1):192-201.
Epub 2020 Sep 30
doi: 10.1038/s41436-020-00968-z.
PMID: 32994552Free PMC Article
Mueller MS,
Sidharta PN,
Voors-Pette C,
Darpo B,
Xue H,
Dingemanse J
Orphanet J Rare Dis
2020 Oct 27;15(1):303.
doi: 10.1186/s13023-020-01582-7.
PMID: 33109218Free PMC Article
Lenders M,
Nordbeck P,
Kurschat C,
Karabul N,
Kaufeld J,
Hennermann JB,
Patten M,
Cybulla M,
Müntze J,
Üçeyler N,
Liu D,
Das AM,
Sommer C,
Pogoda C,
Reiermann S,
Duning T,
Gaedeke J,
Stumpfe K,
Blaschke D,
Brand SM,
Mann WA,
Kampmann C,
Muschol N,
Canaan-Kühl S,
Brand E
Clin Pharmacol Ther
2020 Aug;108(2):326-337.
Epub 2020 Apr 27
doi: 10.1002/cpt.1832.
PMID: 32198894
Benjamin ER,
Della Valle MC,
Wu X,
Katz E,
Pruthi F,
Bond S,
Bronfin B,
Williams H,
Yu J,
Bichet DG,
Germain DP,
Giugliani R,
Hughes D,
Schiffmann R,
Wilcox WR,
Desnick RJ,
Kirk J,
Barth J,
Barlow C,
Valenzano KJ,
Castelli J,
Lockhart DJ
Genet Med
2017 Apr;19(4):430-438.
Epub 2016 Sep 22
doi: 10.1038/gim.2016.122.
PMID: 27657681Free PMC Article
Therapy
McCafferty EH,
Scott LJ
Drugs
2019 Apr;79(5):543-554.
doi: 10.1007/s40265-019-01090-4.
PMID: 30875019Free PMC Article
Müntze J,
Gensler D,
Maniuc O,
Liu D,
Cairns T,
Oder D,
Hu K,
Lorenz K,
Frantz S,
Wanner C,
Nordbeck P
Clin Pharmacol Ther
2019 May;105(5):1224-1233.
Epub 2019 Jan 13
doi: 10.1002/cpt.1321.
PMID: 30506669Free PMC Article
Hughes DA,
Nicholls K,
Shankar SP,
Sunder-Plassmann G,
Koeller D,
Nedd K,
Vockley G,
Hamazaki T,
Lachmann R,
Ohashi T,
Olivotto I,
Sakai N,
Deegan P,
Dimmock D,
Eyskens F,
Germain DP,
Goker-Alpan O,
Hachulla E,
Jovanovic A,
Lourenco CM,
Narita I,
Thomas M,
Wilcox WR,
Bichet DG,
Schiffmann R,
Ludington E,
Viereck C,
Kirk J,
Yu J,
Johnson F,
Boudes P,
Benjamin ER,
Lockhart DJ,
Barlow C,
Skuban N,
Castelli JP,
Barth J,
Feldt-Rasmussen U
J Med Genet
2017 Apr;54(4):288-296.
Epub 2016 Nov 10
doi: 10.1136/jmedgenet-2016-104178.
PMID: 27834756Free PMC Article
Benjamin ER,
Della Valle MC,
Wu X,
Katz E,
Pruthi F,
Bond S,
Bronfin B,
Williams H,
Yu J,
Bichet DG,
Germain DP,
Giugliani R,
Hughes D,
Schiffmann R,
Wilcox WR,
Desnick RJ,
Kirk J,
Barth J,
Barlow C,
Valenzano KJ,
Castelli J,
Lockhart DJ
Genet Med
2017 Apr;19(4):430-438.
Epub 2016 Sep 22
doi: 10.1038/gim.2016.122.
PMID: 27657681Free PMC Article
Germain DP,
Hughes DA,
Nicholls K,
Bichet DG,
Giugliani R,
Wilcox WR,
Feliciani C,
Shankar SP,
Ezgu F,
Amartino H,
Bratkovic D,
Feldt-Rasmussen U,
Nedd K,
Sharaf El Din U,
Lourenco CM,
Banikazemi M,
Charrow J,
Dasouki M,
Finegold D,
Giraldo P,
Goker-Alpan O,
Longo N,
Scott CR,
Torra R,
Tuffaha A,
Jovanovic A,
Waldek S,
Packman S,
Ludington E,
Viereck C,
Kirk J,
Yu J,
Benjamin ER,
Johnson F,
Lockhart DJ,
Skuban N,
Castelli J,
Barth J,
Barlow C,
Schiffmann R
N Engl J Med
2016 Aug 11;375(6):545-55.
doi: 10.1056/NEJMoa1510198.
PMID: 27509102
Prognosis
Bichet DG,
Aerts JM,
Auray-Blais C,
Maruyama H,
Mehta AB,
Skuban N,
Krusinska E,
Schiffmann R
Genet Med
2021 Jan;23(1):192-201.
Epub 2020 Sep 30
doi: 10.1038/s41436-020-00968-z.
PMID: 32994552Free PMC Article
Mueller MS,
Sidharta PN,
Voors-Pette C,
Darpo B,
Xue H,
Dingemanse J
Orphanet J Rare Dis
2020 Oct 27;15(1):303.
doi: 10.1186/s13023-020-01582-7.
PMID: 33109218Free PMC Article
Lukas J,
Cimmaruta C,
Liguori L,
Pantoom S,
Iwanov K,
Petters J,
Hund C,
Bunschkowski M,
Hermann A,
Cubellis MV,
Rolfs A
Int J Mol Sci
2020 Jan 31;21(3)
doi: 10.3390/ijms21030956.
PMID: 32023956Free PMC Article
Benjamin ER,
Della Valle MC,
Wu X,
Katz E,
Pruthi F,
Bond S,
Bronfin B,
Williams H,
Yu J,
Bichet DG,
Germain DP,
Giugliani R,
Hughes D,
Schiffmann R,
Wilcox WR,
Desnick RJ,
Kirk J,
Barth J,
Barlow C,
Valenzano KJ,
Castelli J,
Lockhart DJ
Genet Med
2017 Apr;19(4):430-438.
Epub 2016 Sep 22
doi: 10.1038/gim.2016.122.
PMID: 27657681Free PMC Article
Shin SH,
Kluepfel-Stahl S,
Cooney AM,
Kaneski CR,
Quirk JM,
Schiffmann R,
Brady RO,
Murray GJ
Pharmacogenet Genomics
2008 Sep;18(9):773-80.
doi: 10.1097/FPC.0b013e32830500f4.
PMID: 18698230Free PMC Article
Clinical prediction guides
Lenders M,
Nordbeck P,
Kurschat C,
Eveslage M,
Karabul N,
Kaufeld J,
Hennermann JB,
Patten M,
Cybulla M,
Müntze J,
Üçeyler N,
Liu D,
Das AM,
Sommer C,
Pogoda C,
Reiermann S,
Duning T,
Gaedeke J,
von Cossel K,
Blaschke D,
Brand SM,
Mann WA,
Kampmann C,
Muschol N,
Canaan-Kühl S,
Brand E
Eur Heart J Cardiovasc Pharmacother
2022 May 5;8(3):272-281.
doi: 10.1093/ehjcvp/pvab025.
PMID: 35512362
Bichet DG,
Aerts JM,
Auray-Blais C,
Maruyama H,
Mehta AB,
Skuban N,
Krusinska E,
Schiffmann R
Genet Med
2021 Jan;23(1):192-201.
Epub 2020 Sep 30
doi: 10.1038/s41436-020-00968-z.
PMID: 32994552Free PMC Article
Lenders M,
Nordbeck P,
Kurschat C,
Karabul N,
Kaufeld J,
Hennermann JB,
Patten M,
Cybulla M,
Müntze J,
Üçeyler N,
Liu D,
Das AM,
Sommer C,
Pogoda C,
Reiermann S,
Duning T,
Gaedeke J,
Stumpfe K,
Blaschke D,
Brand SM,
Mann WA,
Kampmann C,
Muschol N,
Canaan-Kühl S,
Brand E
Clin Pharmacol Ther
2020 Aug;108(2):326-337.
Epub 2020 Apr 27
doi: 10.1002/cpt.1832.
PMID: 32198894
Benjamin ER,
Della Valle MC,
Wu X,
Katz E,
Pruthi F,
Bond S,
Bronfin B,
Williams H,
Yu J,
Bichet DG,
Germain DP,
Giugliani R,
Hughes D,
Schiffmann R,
Wilcox WR,
Desnick RJ,
Kirk J,
Barth J,
Barlow C,
Valenzano KJ,
Castelli J,
Lockhart DJ
Genet Med
2017 Apr;19(4):430-438.
Epub 2016 Sep 22
doi: 10.1038/gim.2016.122.
PMID: 27657681Free PMC Article
Shin SH,
Kluepfel-Stahl S,
Cooney AM,
Kaneski CR,
Quirk JM,
Schiffmann R,
Brady RO,
Murray GJ
Pharmacogenet Genomics
2008 Sep;18(9):773-80.
doi: 10.1097/FPC.0b013e32830500f4.
PMID: 18698230Free PMC Article