Etiology
Malec L,
Peyvandi F,
Chan AKC,
Königs C,
Zulfikar B,
Yuan H,
Simpson M,
Álvarez Román MT,
Carcao M,
Staber JM,
Dunn AL,
Chou SC,
d'Oiron R,
Albisetti M,
Demissie M,
Santagostino E,
Yarramaneni A,
Wong N,
Abad-Franch L,
Gunawardena S,
Fijnvandraat K;
XTEND-Kids Trial Group
N Engl J Med
2024 Jul 18;391(3):235-246.
doi: 10.1056/NEJMoa2312611.
PMID: 39018533
Mahlangu J,
Kaczmarek R,
von Drygalski A,
Shapiro S,
Chou SC,
Ozelo MC,
Kenet G,
Peyvandi F,
Wang M,
Madan B,
Key NS,
Laffan M,
Dunn AL,
Mason J,
Quon DV,
Symington E,
Leavitt AD,
Oldenburg J,
Chambost H,
Reding MT,
Jayaram K,
Yu H,
Mahajan R,
Chavele KM,
Reddy DB,
Henshaw J,
Robinson TM,
Wong WY,
Pipe SW;
GENEr8-1 Trial Group
N Engl J Med
2023 Feb 23;388(8):694-705.
doi: 10.1056/NEJMoa2211075.
PMID: 36812433
von Drygalski A,
Chowdary P,
Kulkarni R,
Susen S,
Konkle BA,
Oldenburg J,
Matino D,
Klamroth R,
Weyand AC,
Jimenez-Yuste V,
Nogami K,
Poloskey S,
Winding B,
Willemze A,
Knobe K;
XTEND-1 Trial Group
N Engl J Med
2023 Jan 26;388(4):310-318.
doi: 10.1056/NEJMoa2209226.
PMID: 36720133
Ozelo MC,
Mahlangu J,
Pasi KJ,
Giermasz A,
Leavitt AD,
Laffan M,
Symington E,
Quon DV,
Wang JD,
Peerlinck K,
Pipe SW,
Madan B,
Key NS,
Pierce GF,
O'Mahony B,
Kaczmarek R,
Henshaw J,
Lawal A,
Jayaram K,
Huang M,
Yang X,
Wong WY,
Kim B;
GENEr8-1 Trial Group
N Engl J Med
2022 Mar 17;386(11):1013-1025.
doi: 10.1056/NEJMoa2113708.
PMID: 35294811
Winter WE,
Flax SD,
Harris NS
Lab Med
2017 Nov 8;48(4):295-313.
doi: 10.1093/labmed/lmx050.
PMID: 29126301
Diagnosis
Hamedani NS,
Donners AAMT,
van Luin M,
Gasper S,
Rühl H,
Klein C,
Albert T,
El Amrani M,
Pötzsch B,
Oldenburg J,
Müller J
J Thromb Haemost
2023 Dec;21(12):3490-3500.
Epub 2023 Sep 21
doi: 10.1016/j.jtha.2023.09.011.
PMID: 37741510
Lim MY,
Buckner TW
Curr Opin Hematol
2020 Sep;27(5):295-301.
doi: 10.1097/MOH.0000000000000600.
PMID: 32701616
Valentino LA,
Khair K
Expert Rev Hematol
2020 Jul;13(7):731-743.
Epub 2020 Jun 23
doi: 10.1080/17474086.2020.1775576.
PMID: 32573295
Tabibian S,
Motlagh H,
Naderi M,
Dorgalaleh A
Blood Coagul Fibrinolysis
2018 Jan;29(1):1-11.
doi: 10.1097/MBC.0000000000000660.
PMID: 28901996
Winter WE,
Flax SD,
Harris NS
Lab Med
2017 Nov 8;48(4):295-313.
doi: 10.1093/labmed/lmx050.
PMID: 29126301
Therapy
De Wolf D,
Singh K,
Chuah MK,
VandenDriessche T
Hum Gene Ther
2023 Sep;34(17-18):782-792.
doi: 10.1089/hum.2023.112.
PMID: 37672530
Mahlangu J,
Kaczmarek R,
von Drygalski A,
Shapiro S,
Chou SC,
Ozelo MC,
Kenet G,
Peyvandi F,
Wang M,
Madan B,
Key NS,
Laffan M,
Dunn AL,
Mason J,
Quon DV,
Symington E,
Leavitt AD,
Oldenburg J,
Chambost H,
Reding MT,
Jayaram K,
Yu H,
Mahajan R,
Chavele KM,
Reddy DB,
Henshaw J,
Robinson TM,
Wong WY,
Pipe SW;
GENEr8-1 Trial Group
N Engl J Med
2023 Feb 23;388(8):694-705.
doi: 10.1056/NEJMoa2211075.
PMID: 36812433
von Drygalski A,
Chowdary P,
Kulkarni R,
Susen S,
Konkle BA,
Oldenburg J,
Matino D,
Klamroth R,
Weyand AC,
Jimenez-Yuste V,
Nogami K,
Poloskey S,
Winding B,
Willemze A,
Knobe K;
XTEND-1 Trial Group
N Engl J Med
2023 Jan 26;388(4):310-318.
doi: 10.1056/NEJMoa2209226.
PMID: 36720133
Franchini M,
Mannucci PM
Semin Thromb Hemost
2022 Nov;48(8):904-910.
Epub 2022 Sep 15
doi: 10.1055/s-0042-1756188.
PMID: 36108649
Ozelo MC,
Mahlangu J,
Pasi KJ,
Giermasz A,
Leavitt AD,
Laffan M,
Symington E,
Quon DV,
Wang JD,
Peerlinck K,
Pipe SW,
Madan B,
Key NS,
Pierce GF,
O'Mahony B,
Kaczmarek R,
Henshaw J,
Lawal A,
Jayaram K,
Huang M,
Yang X,
Wong WY,
Kim B;
GENEr8-1 Trial Group
N Engl J Med
2022 Mar 17;386(11):1013-1025.
doi: 10.1056/NEJMoa2113708.
PMID: 35294811
Prognosis
Verhagen MJA,
Valke LLFG,
Schols SEM
J Thromb Haemost
2022 Apr;20(4):794-805.
Epub 2022 Jan 28
doi: 10.1111/jth.15640.
PMID: 35034413Free PMC Article
Bawazir OA,
Alharbi I
J Pediatr Hematol Oncol
2021 Jan;43(1):e33-e36.
doi: 10.1097/MPH.0000000000001960.
PMID: 33003145
Koc B,
Zulfikar B
J Pediatr Hematol Oncol
2021 Jan;43(1):e29-e32.
doi: 10.1097/MPH.0000000000001868.
PMID: 32569036
Pasi KJ,
Rangarajan S,
Mitchell N,
Lester W,
Symington E,
Madan B,
Laffan M,
Russell CB,
Li M,
Pierce GF,
Wong WY
N Engl J Med
2020 Jan 2;382(1):29-40.
doi: 10.1056/NEJMoa1908490.
PMID: 31893514
Manco-Johnson MJ,
Abshire TC,
Shapiro AD,
Riske B,
Hacker MR,
Kilcoyne R,
Ingram JD,
Manco-Johnson ML,
Funk S,
Jacobson L,
Valentino LA,
Hoots WK,
Buchanan GR,
DiMichele D,
Recht M,
Brown D,
Leissinger C,
Bleak S,
Cohen A,
Mathew P,
Matsunaga A,
Medeiros D,
Nugent D,
Thomas GA,
Thompson AA,
McRedmond K,
Soucie JM,
Austin H,
Evatt BL
N Engl J Med
2007 Aug 9;357(6):535-44.
doi: 10.1056/NEJMoa067659.
PMID: 17687129
Clinical prediction guides
Madan B,
Ozelo MC,
Raheja P,
Symington E,
Quon DV,
Leavitt AD,
Pipe SW,
Lowe G,
Kenet G,
Reding MT,
Mason J,
Wang M,
von Drygalski A,
Klamroth R,
Shapiro S,
Chambost H,
Dunn AL,
Oldenburg J,
Chou SC,
Peyvandi F,
Millar CM,
Osmond D,
Yu H,
Dashiell-Aje E,
Robinson TM,
Mahlangu J
J Thromb Haemost
2024 Jul;22(7):1880-1893.
Epub 2024 Apr 12
doi: 10.1016/j.jtha.2024.04.001.
PMID: 38614387
Pasi KJ,
Rangarajan S,
Mitchell N,
Lester W,
Symington E,
Madan B,
Laffan M,
Russell CB,
Li M,
Pierce GF,
Wong WY
N Engl J Med
2020 Jan 2;382(1):29-40.
doi: 10.1056/NEJMoa1908490.
PMID: 31893514
Iorio A,
Stonebraker JS,
Chambost H,
Makris M,
Coffin D,
Herr C,
Germini F;
Data and Demographics Committee of the World Federation of Hemophilia
Ann Intern Med
2019 Oct 15;171(8):540-546.
Epub 2019 Sep 10
doi: 10.7326/M19-1208.
PMID: 31499529
Tabibian S,
Motlagh H,
Naderi M,
Dorgalaleh A
Blood Coagul Fibrinolysis
2018 Jan;29(1):1-11.
doi: 10.1097/MBC.0000000000000660.
PMID: 28901996
Mahlangu J,
Powell JS,
Ragni MV,
Chowdary P,
Josephson NC,
Pabinger I,
Hanabusa H,
Gupta N,
Kulkarni R,
Fogarty P,
Perry D,
Shapiro A,
Pasi KJ,
Apte S,
Nestorov I,
Jiang H,
Li S,
Neelakantan S,
Cristiano LM,
Goyal J,
Sommer JM,
Dumont JA,
Dodd N,
Nugent K,
Vigliani G,
Luk A,
Brennan A,
Pierce GF;
A-LONG Investigators
Blood
2014 Jan 16;123(3):317-25.
Epub 2013 Nov 13
doi: 10.1182/blood-2013-10-529974.
PMID: 24227821Free PMC Article