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Journal Articles

Clinical Monitoring Practices Among Adult Patients with Pyruvate Kinase Deficiency Who Have Never Been Transfused

Stefan W Eber, Andreas Glenthøj, Bertil Glader, Dagmar Pospisilova, Eduard J. van Beers, Rachael F. Grace, Joan-Lluis Vives Corrons, Hitoshi Kanno, Kevin H.M. Kuo, Paola Bianchi, Audra Boscoe, Bryan McGee, Yan Yan, Junlong Li, Janet H. Ford, Carl Lander

Blood (2024) 144 (Supplement 1): 3696.

https://doi.org/10.1182/blood-2024-200739

Published: 2024

Journal Articles

uRADAR: European Patients Referral Frame to Improve Access to New Drugs and Therapies in Ultra-Rare Anemia Disorders and Severe Hereditary Spherocytosis

Blood (2024) 144 (Supplement 1): 794.

https://doi.org/10.1182/blood-2024-201501

Published: 2024

Journal Articles

Single-Cell-Multiomics Demonstrates Molecular Efficacy of a Clinical Lentiviral Vector for Gene Therapy of RPS19-Deficient Diamond-Blackfan Anemia

Sofia Freiman, Jun Chen, Johan Flygare, Chayenne Kampman, Karin Pike-Overzet, Alexander Mohseny, Teng-Cheong Ha, Mathias Lidgren, Shamit Soneji, Stefan Karlsson, Dagmar Pospíšilová, Frank Staal, Axel Schambach, Johan Flygare

Blood (2023) 142 (Supplement 1): 943.

https://doi.org/10.1182/blood-2023-185802

Published: 2023

Journal Articles

Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

Paola Bianchi, Elisa Fermo, Kevin H.M. Kuo, Dagmar Pospíšilová, Andreas Glenthoej, Carl Lander, Eduard J. Van Beers, Bertil Glader, Joan-Lluis Vives Corrons, Stefan W Eber, Yan Yan, Bryan McGee, Janet H Ford, Saliha Yilmaz, Rachael F. Grace

Blood (2023) 142 (Supplement 1): 5203.

https://doi.org/10.1182/blood-2023-181834

Published: 2023

Journal Articles

Metabolomic Profiling Confirms the Key Role of Oxidative Stress in the Pathophysiology of Diamond-Blackfan Anemia

Ondrej Jahoda, Dana Dobesova, Katarina Hlusickova Kapralova, Simona Kurekova, Dagmar Pospisilova, Vladimir Divoky, David Friedecky, Monika Horvathova

Blood (2023) 142 (Supplement 1): 2734.

https://doi.org/10.1182/blood-2023-174840

Published: 2023

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.

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.

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.

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.

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

Published: 2021

Journal Articles

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Blood (2019) 134 (Supplement_1): 2175.

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

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.

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

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.

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.

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

Published: 2019

Journal Articles

Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Blood (2019) 134 (Supplement_1): 949.

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

Published: 2019

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.

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

Published: 2018

Journal Articles

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

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

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

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.

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.

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.

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.

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

Published: 2017

NARROW

Clinical Monitoring Practices Among Adult Patients with Pyruvate Kinase Deficiency Who Have Never Been Transfused

uRADAR: European Patients Referral Frame to Improve Access to New Drugs and Therapies in Ultra-Rare Anemia Disorders and Severe Hereditary Spherocytosis

Single-Cell-Multiomics Demonstrates Molecular Efficacy of a Clinical Lentiviral Vector for Gene Therapy of RPS19-Deficient Diamond-Blackfan Anemia

Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

Metabolomic Profiling Confirms the Key Role of Oxidative Stress in the Pathophysiology of Diamond-Blackfan Anemia

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

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

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

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

Characterization of the Severe Phenotype of 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

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

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

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American Society of Hematology

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American Society of Hematology

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