Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

被引：0

作者：

Bianchi, Paola ^{[1
]}

Fermo, Elisa ^{[2
]}

Kuo, Kevin H. M. ^{[3
]}

Pospisilova, Dagmar ^{[4
,5
]}

Glenthoej, Andreas ^{[6
]}

Lander, Carl ^{[7
]}

Van Beers, Eduard J. ^{[8
]}

Glader, Bertil ^{[9
]}

Vives Corrons, Joan-Lluis ^{[10
]}

Eber, Stefan W. ^{[11
]}

Yan, Yan ^{[12
]}

McGee, Bryan ^{[12
]}

Ford, Janet H. ^{[12
]}

Yilmaz, Saliha ^{[12
]}

Grace, Rachael F. ^{[13
]}

机构：

[1] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Hematol Unit, Pathophysiol Anemias Unit, Milan, Italy

[2] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Hematol Unit, Pathophysiol Anemia Unit, Milan, Italy

[3] Univ Toronto, Div Hematol, Dept Med, Toronto, ON, Canada

[4] Palacky Univ, Dept Pediat, Olomouc, Czech Republic

[5] Univ Hosp, Olomouc, Czech Republic

[6] Copenhagen Univ Hosp, Dept Hematol, Danish Red Blood Cell Ctr, Rigshosp, Copenhagen, Denmark

[7] Thrive PK Deficiency, Bath, Avon, England

[8] Univ Med Ctr Utrecht, Ctr Benign Hematol Thrombosis & Hemostasis Crevel, Utrecht, Netherlands

[9] Stanford Univ, Dept Pediat Div Hematol Oncol Stem Cell Transplan, Dept Pediat, Sch Med, Stanford, CA USA

[10] Inst Leukaemia Res Josep Carreras, Red Blood Cell & Haematopoiet Disorders Res Unit, Barcelona, Spain

[11] Tech Univ, Schwerpunktpraxis Padiatr Hamatol, Onkol & Childrens Hosp, Munich, Germany

[12] Agios Pharmaceut Inc, Cambridge, MA USA

[13] Harvard Med Sch, Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA USA

来源：

BLOOD | 2023年 / 142卷

关键词：

D O I：

10.1182/blood-2023-181834

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页数：4

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