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Journal Articles

Age of Onset of Complications in Patients with Pyruvate Kinase Deficiency: Analysis from the Peak Registry

Andreas Glenthøj, Rachael F. Grace, Eduard J. van Beers, Joan-Lluis Vives Corrons, Bert Glader, Kevin H.M. Kuo, Carl Lander, Dagmar Pospíšilová, Hitoshi Kanno, Jean Williams, Yan Yan, Bryan McGee, Paola Bianchi

Blood (2022) 140 (Supplement 1): 5323–5325.

DOI: https://doi.org/10.1182/blood-2022-156205

Published: 2022

Journal Articles

Comorbidities and Complications in Pediatric Patients with Pyruvate Kinase Deficiency Enrolled in the Peak Registry

Rachael F. Grace, Andreas Glenthøj, Carl Lander, Eduard J. van Beers, Hitoshi Kanno, Joan-Lluis Vives Corrons, Paola Bianchi, Dagmar Pospíšilová, Jean Williams, Yan Yan, Bryan McGee, Bert Glader

Blood (2022) 140 (Supplement 1): 5316–5318.

DOI: https://doi.org/10.1182/blood-2022-168799

Published: 2022

Journal Articles

The Launch of Two Sub-Studies of the Peak Registry, a Global, Longitudinal Study of Pyruvate Kinase Deficiency

Carl Lander, Rachael F. Grace, Eduard J. van Beers, Joan-Lluis Vives Corrons, Bert Glader, Kevin H.M. Kuo, Andreas Glenthøj, Dagmar Pospíšilová, D. Mark Layton, Audra Boscoe, Stephanie Smith, Bryan McGee, Paola Bianchi

Blood (2022) 140 (Supplement 1): 11041–11042.

DOI: https://doi.org/10.1182/blood-2022-163079

Published: 2022

Journal Articles

Characterizing Iron Overload By Age in Patients Diagnosed with Pyruvate Kinase Deficiency - a Descriptive Analysis from the Peak Registry

Paola Bianchi, Rachael F. Grace, Joan-Lluis Vives Corrons, Bert Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H.M. Kuo, Carl Lander, D. Mark Layton, Dagmar Pospíŝilová, Vip Viprakasit, Jean Williams, Yan Yan, Bryan McGee, Eduard J. Van Beers

Blood (2021) 138 (Supplement 1): 3074.

DOI: https://doi.org/10.1182/blood-2021-147294

Published: 2021

Journal Articles

Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Blood (2019) 134 (Supplement_1): 949.

DOI: https://doi.org/10.1182/blood-2019-125352

Published: 2019

Journal Articles

Deep Immunoprofiling By Flow Cytometry and NGS Reveals Distinct T Cell Profile in Pediatric Hepatitis-Associated Aplastic Anemia

Michaela Novakova, Michael Svaton, MD, Martina Sukova, MD, Veronika Kanderova, MSc, PhD, Nikos Darzentas, PhD, Lenka Kramna, MSc, PhD, Ondrej Cinek, Prof., MD PhD, Dagmar Pospisilova, Prof MD PhD, Jan Trka, Prof., MD PhD, Ondrej Hrusak, MD PhD, Jan Stary, Prof., MD PhD, Ester Mejstrikova, MD PhD, Eva Fronkova, MD PhD

Blood (2019) 134 (Supplement_1): 2508.

DOI: https://doi.org/10.1182/blood-2019-127986

Published: 2019

Journal Articles

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Blood (2019) 134 (Supplement_1): 2175.

DOI: https://doi.org/10.1182/blood-2019-123069

Published: 2019

Journal Articles

Platelet Desialylation As a Predictive Marker in Childhood Immune Thrombocytopenia (ITP)

Leona Raskova Kafkova, MSc, PhD, Diana Brokesova, MSc, Zbynek Novak, MD, Milan Raska, Prof. MD MSc, PhD, Dagmar Pospisilova, Prof MD PhD, Jana Volejnikova, MD

Blood (2019) 134 (Supplement_1): 221.

DOI: https://doi.org/10.1182/blood-2019-122095

Published: 2019

Journal Articles

Malignancies and MDS in Patients with Diamond-Blackfan Anemia (DBA) from the Czech National DBA Registry

Dagmar Pospisilova, Prof MD PhD, Jaroslav Cermak, Monika Belickova, PhD, Monika Horvathova, MSc, PhD, Jana Volejnikova, MD

Blood (2019) 134 (Supplement_1): 5017.

DOI: https://doi.org/10.1182/blood-2019-126187

Published: 2019

Journal Articles

Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency

Blood (2018) 132 (Supplement 1): 4807.

DOI: https://doi.org/10.1182/blood-2018-99-113206

Published: 2018

Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH

Blood (2018) 132 (Supplement 1): 3854.

DOI: https://doi.org/10.1182/blood-2018-99-117171

Published: 2018

Journal Articles

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Blood (2018) 131 (20): 2183–2192.

DOI: https://doi.org/10.1182/blood-2017-10-810796

Published: 2018

Includes: Supplemental data

Journal Articles

Inflammatory Signature, Oxidative Stress, and DNA Damage Response in DBA Pathogenesis

Katarina Kapralova, MSc, Zuzana Saxova, PhD, Barbora Kralova, MSc, Lucie Lanikova, PhD, Dagmar Pospisilova, Prof. MD PhD, Vladimir Divoky, PhD, Monika Horvathova, MSc, PhD

Blood (2017) 130 (Supplement 1): 2452.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.2452.2452

Published: 2017

Journal Articles

Large Deletions and Novel Mutations in Genes Coding for Ribosomal Proteins ( RPL11 , RPL35A , RPS19 ) in the Czech National Registry of Diamond-Blackfan Anemia (DBA)

Jana Volejnikova, MD, Petr Vojta, MSc, Zuzana Maceckova, MSc, Pavla Koralkova, MSc, Helena Urbankova, MSc, PhD, Monika Horvathova, MSc, PhD, Barbora Ludikova, MD PhD, Martina Sukova, MD, Pavel Timr, MD, Marian Hajduch, MD PhD, Dagmar Pospisilova, Prof. MD PhD

Blood (2017) 130 (Supplement 1): 3485.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.3485.3485

Published: 2017

Journal Articles

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Paola Bianchi, BSc, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, Richard van Wijk, PhD, Eduard J. Van Beers, MD, Hassan M. Yaish, MD, Janet L. Kwiatkowski, MD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Oliver Andres, MD, Wilma Barcellini, MD, D. Holmes Morton, MD, Bertil Glader, MD, Stefan W. Eber, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Kevin H.M. Kuo, MD MSc, FRCPC, Dagmar Pospisilova, Prof. MD PhD, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa N. McNaull, MD, Gabrielle P. Ooyama, Nolan Neu, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD

Blood (2017) 130 (Supplement 1): 3479.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.3479.3479

Published: 2017

Journal Articles

Two Novel Mutations in Ribosomal Proteins in the Czech National Diamond-Blackfan Anemia Registry

Zuzana Maceckova, MSc, Pavla Koralkova, MSc, Jana Volejnikova, MD PhD, Petr Vojta, MSc, Alexandra Jungova, MD, Zuzana Saxova, MSc, Renata Mojzikova, MSc, PhD, Marie Jarosova, MSc PhD, Ivana Hadacova, MD, Marian Hajduch, MD PhD, Monika Horvathova, MSc, PhD, Dagmar Pospisilova, MD PhD

Blood (2016) 128 (22): 3903.

DOI: https://doi.org/10.1182/blood.V128.22.3903.3903

Published: 2016

Journal Articles

Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia

Katarina Kapralova, Monika Horvathova, Christian Pecquet, Jana Fialova Kucerova, Dagmar Pospisilova, Emilie Leroy, Barbora Kralova, Jelena D. Milosevic Feenstra, Fiorella Schischlik, Robert Kralovics, Stefan N. Constantinescu, Vladimir Divoky

Blood (2016) 128 (10): 1418–1423.

DOI: https://doi.org/10.1182/blood-2016-02-698951

Published: 2016

Includes: Supplemental data

Journal Articles

PETIT and PETIT 2: Treatment with Eltrombopag in 171 Children with Chronic Immune Thrombocytopenia (ITP)

Blood (2014) 124 (21): 1450.

DOI: https://doi.org/10.1182/blood.V124.21.1450.1450

Published: 2014

Journal Articles

JAK2 E846D Germline Mutation Associated with Erythrocytosis Causes Increased and Prolonged Epo-Induced Activation of STAT5

Katarina Kapralova, MSc, Monika Horvathova, PhD, Jana Kucerova, PhD, Dagmar Pospisilova, MD PhD, Emilie Leroy, Stefan N. Constantinescu, MD PhD, Vladimir Divoky, PhD

Blood (2014) 124 (21): 4008.

DOI: https://doi.org/10.1182/blood.V124.21.4008.4008

Published: 2014

Journal Articles

Defect in B Cell Production Driven By GATA2 Mutation Results in Their Absolute Reduction and Mature Phenotype in Pediatric Patients

Michaela Novakova, Ales Janda, Marcin W Wlodarski, Martina Sukova, Vit Campr, Marketa Kubricanova Zaliova, Eva Fronkova, Elena Vodickova, Ondrej Zapletal, Jan Blatny, Katerina Lejhancova, Dagmar Pospisilova, Zdena Cerna, Tomas Kuhn, Zuzana Zemanova, Jan Trka, Ondrej Hrusak, Jan Stary, Ester Mejstrikova

Blood (2014) 124 (21): 2746.

DOI: https://doi.org/10.1182/blood.V124.21.2746.2746

Published: 2014

NARROW

Age of Onset of Complications in Patients with Pyruvate Kinase Deficiency: Analysis from the Peak Registry

Comorbidities and Complications in Pediatric Patients with Pyruvate Kinase Deficiency Enrolled in the Peak Registry

The Launch of Two Sub-Studies of the Peak Registry, a Global, Longitudinal Study of Pyruvate Kinase Deficiency

Characterizing Iron Overload By Age in Patients Diagnosed with Pyruvate Kinase Deficiency - a Descriptive Analysis from the Peak Registry

Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Deep Immunoprofiling By Flow Cytometry and NGS Reveals Distinct T Cell Profile in Pediatric Hepatitis-Associated Aplastic Anemia

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Platelet Desialylation As a Predictive Marker in Childhood Immune Thrombocytopenia (ITP)

Malignancies and MDS in Patients with Diamond-Blackfan Anemia (DBA) from the Czech National DBA Registry

Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Inflammatory Signature, Oxidative Stress, and DNA Damage Response in DBA Pathogenesis

Large Deletions and Novel Mutations in Genes Coding for Ribosomal Proteins ( RPL11 , RPL35A , RPS19 ) in the Czech National Registry of Diamond-Blackfan Anemia (DBA)

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Two Novel Mutations in Ribosomal Proteins in the Czech National Diamond-Blackfan Anemia Registry

Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia

PETIT and PETIT 2: Treatment with Eltrombopag in 171 Children with Chronic Immune Thrombocytopenia (ITP)

JAK2 E846D Germline Mutation Associated with Erythrocytosis Causes Increased and Prolonged Epo-Induced Activation of STAT5

Defect in B Cell Production Driven By GATA2 Mutation Results in Their Absolute Reduction and Mature Phenotype in Pediatric Patients

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American Society of Hematology

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American Society of Hematology

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