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

共 50 条

[21] Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency
Bianchi, Paola
Fermo, Elisa
Glader, Bertil
Kanno, Hitoshi
Agarwal, Archana
Barcellini, Wilma
Eber, Stefan
Hoyer, James D.
Kuter, David J.
Maia, Tabita Magalhaes
Manu-Pereira, Maria del Mar
Kalfa, Theodosia A.
Pissard, Serge
Segovia, Jose-Carlos
van Beers, Eduard
Gallagher, Patrick G.
Rees, David C.
van Wijk, Richard
AMERICAN JOURNAL OF HEMATOLOGY, 2019, 94 (01) : 149 - 161
[22] MOLECULAR-GENETIC HETEROGENEITY OF PHOSPHOGLYCERATE KINASE (PGK) DEFICIENCY
TSUJINO, S
SHANSKE, S
DIMAURO, S
MUSCLE & NERVE, 1995, : S45 - S49
[23] MOLECULAR ANOMALIES IN PATIENTS WITH HEREDITARY PYRUVATE-KINASE DEFICIENCY
KAHN, A
MARIE, J
HUMAN HEREDITY, 1977, 27 (03) : 187 - 187
[24] CHARACTERIZATION OF HEMATOPOIETIC SAMPLES FROM PYRUVATE KINASE DEFICIENCY PATIENTS
Sanchez-Dominguez, R.
Alberquilla, O.
Lopez-Manzaneda, S.
Quintana-Bustamante, O.
Bianchi, P.
Manu-Pereira, M. D. M.
Vives-Corrons, J. -L.
Badell, I.
Sevilla, J.
Bueren, J. A.
Navarro, S.
Segovia, J. C.
HAEMATOLOGICA, 2017, 102 : 737 - 737
[25] Mitapivat Improves Iron Overload in Patients with Pyruvate Kinase Deficiency
van Beers, Eduard J.
Al-Samkari, Hanny
Grace, Rachael F.
Barcellini, Wilma
Glenthoj, Andreas
Dibacco, Melissa
Kosinski, Penelope A.
Xu, Emily
Beynon, Vanessa
Patel, Parija
Porter, John B.
Kuo, Kevin H. M.
BLOOD, 2022, 140 : 2462 - 2464
[26] Validation of the Pyruvate Kinase Deficiency Diary (PKDD): A PatientReported Outcome Measure for Pyruvate Kinase (PK) Deficiency
Egan, Shayna
Zagadailov, Erin
Jewett, Adrian
Li, Junlong
Tai, Feng
Boscoe, Audra
Andrae, David A.
BLOOD, 2021, 138
[27] Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study
Grace, Rachael F.
Bianchi, Paola
van Beers, Eduard J.
Eber, Stefan W.
Glader, Bertil
Yaish, Hassan M.
Despotovic, Jenny M.
Rothman, Jennifer A.
Sharma, Mukta
McNaull, Melissa M.
Fermo, Elisa
Lezon-Geyda, Kimberly
Morton, D. Holmes
Neufeld, Ellis J.
Chonat, Satheesh
Kollmar, Nina
Knoll, Christine M.
Kuo, Kevin
Kwiatkowski, Janet L.
Pospisilova, Dagmar
Pastore, Yves D.
Thompson, Alexis A.
Newburger, Peter E.
Ravindranath, Yaddanapudi
Wang, Winfred C.
Wlodarski, Marcin W.
Wang, Heng
Holzhauer, Susanne
Breakey, Vicky R.
Kunz, Joachim
Sheth, Sujit
Rose, Melissa J.
Bradeen, Heather A.
Neu, Nolan
Guo, Dongjing
Al-Sayegh, Hasan
London, Wendy B.
Gallagher, Patrick G.
Zanella, Alberto
Barcellini, Wilma
BLOOD, 2018, 131 (20) : 2183 - 2192
[28] PYRUVATE-KINASE DEFICIENCY - CHARACTERIZATION OF 2 NEW GENETIC-VARIANTS
DENTE, L
DURSO, M
DIMAIO, S
BRANCACCIO, V
LUZZATTO, L
CLINICA CHIMICA ACTA, 1982, 126 (02) : 143 - 154
[29] MONOMERIC FORM OF PYRUVATE-KINASE IN HUMAN PYRUVATE-KINASE DEFICIENCY
ADACHI, K
GHORY, PK
ASAKURA, T
SCHWARTZ, E
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (02) : 501 - 504
[30] Mitapivat for treatment of pyruvate kinase deficiency
Costa, Fernando F.
LANCET HAEMATOLOGY, 2022, 9 (10): : E708 - E709

← 1 2 3 4 5 →