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Journal Articles

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Ayami Yoshimi, MD PhD, Sarah C Grünert, MD, Holger Cario, MD PhD, Ute Gross-Wieltsch, MD, Udo Kontny, MD, Kyogo Suzuki, MD PhD, Stephan Lobitz, MD, Helen Wagner, MD, Irene Schmid, MD, Daniela Karall, MD, Arndt Borkhardt, MD, Miriam Erlacher, Peter Noellke, MPH, Charlotte M. Niemeyer, MD

Blood (2019) 134 (Supplement_1): 3746.

https://doi.org/10.1182/blood-2019-125199

Published: 2019

Journal Articles

Characterization of Congenital Sideroblastic Anemia Model Due to ABCB7 Defects: How Do Defects in Iron-Sulfur Cluster Metabolism Lead to Ring Sideroblast Formation?

Tohru Fujiwara, MD PhD, Chie Suzuki, Tetsuro Ochi, Koya Ono, MD, Kei Saito, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Hisayuki Yokoyama, MD PhD, Shinichi Fujimaki, Yukio Nakamura, MD PhD, Hideo Harigae, MD PhD

Blood (2019) 134 (Supplement_1): 2232.

https://doi.org/10.1182/blood-2019-123918

Published: 2019

Journal Articles

Proton Pump Inhibition for Secondary Hemochromatosis in Hereditary Anemia, a Phase III Placebo Controlled Randomized Cross-over Trial in Progress

Annelies J. Van Vuren, MD, Bart J. Biemond, MD PhD, Jean-Louis Kerkhoffs, MD PhD, Saskia E.M. Schols, MD PhD, A. W. Rijneveld, MD PhD, Erfan Nur, MD PhD, Richard van Wijk, PhD, Tim Leiner, MD PhD, Joannes J.M. Marx, Emeritus Professor, Eduard J. van Beers, MD PhD

Blood (2019) 134 (Supplement_1): 960.

https://doi.org/10.1182/blood-2019-124059

Published: 2019

Journal Articles

The molecular genetics of sideroblastic anemia

Sarah Ducamp, Mark D. Fleming

Blood (2019) 133 (1): 59–69.

https://doi.org/10.1182/blood-2018-08-815951

Published: 2019

Journal Articles

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Rachel Mayhew, Frances Smith, Laura Steedman, Nicholas Parkin, Eva Moldes Beiro, Peter Rushton, Alison Bybee, David Brawand, Judith Marsh, Austin G. Kulasekararaj, MBBS, MD MRCP, FRCPath, Shreyans Ghandi, Sahar Mansour, Ghulam Mufti, Antonio Pagliuca, Subarna Chakravorty, David C Rees, Barnaby Clark

Blood (2018) 132 (Supplement 1): 3609.

https://doi.org/10.1182/blood-2018-99-118799

Published: 2018

Journal Articles

Generation and Molecular Characterization of Human Ring Sideroblasts

Kei Saito, Tohru Fujiwara, MD PhD, Shunsuke Hatta, Chie Suzuki, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Yukio Nakamura, MD PhD, Hideo Harigae, MD

Blood (2018) 132 (Supplement 1): 3613.

https://doi.org/10.1182/blood-2018-99-111066

Published: 2018

Journal Articles

Hepcidin and Erythroferrone in the Anemia of Low-Risk Myelodysplastic Syndromes

Gillen Oarbeascoa, MD, Sara Redondo, MD, Maria Jose Morán-Jiménez, MD, Amalia Domingo, MD, Cristina Muñoz-Linares, MD, Maria Isabel Moreno-Carralero, MD, Jose Maria Bellon, Juan Francisco del Campo Rincon, MD, Jose Luis Díez-Martín, MD PhD, Patricia Font, MD

Blood (2018) 132 (Supplement 1): 3085.

https://doi.org/10.1182/blood-2018-99-116992

Published: 2018

Journal Articles

First-in-Human Mitochondrial Augmentation of Hematopoietic Stem Cells in Pearson Syndrome

Elad Jacoby, MD, Moriya Blumkin, PhD, Yair Anikster, MD PhD, Nira Varda-Bloom, PhD, Julia Pansheen, Omer Bar Yoseph, MD PhD, Noah Gruber, MD, Einat Lahav, MD, Michal J Besser, PhD, Jacob Schachter, MD, Noa Sher, PhD, Natalie Yivgi Ohana, PhD, Amos Toren, MD PhD

Blood (2018) 132 (Supplement 1): 1024.

https://doi.org/10.1182/blood-2018-99-113773

Published: 2018

Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Blood (2018) 132 (Supplement 1): 4936.

https://doi.org/10.1182/blood-2018-99-111609

Published: 2018

Journal Articles

Generation of Patient-Derived Human Induced Pluripotent Stem Cells in X-Linked Sideroblastic Anemia and Novel Therapeutic Strategies

Yuki Morimoto, MD, Kazuhisa Chonabayashi, MD PhD, Masayuki Umeda, MD, Hiroshi Kawabata, MD PhD, Akifumi Takaori-Kondo, MD PhD, Yoshinori Yoshida, MD PhD

Blood (2017) 130 (Supplement 1): 938.

https://doi.org/10.1182/blood.V130.Suppl_1.938.938

Published: 2017

Journal Articles

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Mark D. Fleming, MD DPhil

Blood (2017) 130 (Supplement 1): SCI-41.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-41.SCI-41

Published: 2017

Journal Articles

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

Andrew Crispin, BS, Paul Schmidt, PhD, Dean Campagna, BS, Chang Cao, PhD, Daniel Lichtenstein, BS, Anoop Sendamarai, PhD, Chaoshe Guo, PhD, Caiyong Chen, PhD, Gordon J Hildick-Smith, MD, Nicolas C Huston, BA, Jeanne Boudreaux, MD, Sylvia S. Bottomley, MD, Matthew M Heeney, MD, Barry H. Paw, MD PhD, Mark D. Fleming, MD DPhil, Sarah Ducamp, PhD

Blood (2017) 130 (Supplement 1): 79.

https://doi.org/10.1182/blood.V130.Suppl_1.79.79

Published: 2017

Journal Articles

Screening of Mutations Related to Hereditary Anemias Using NGS-Targeted Sequencing Panel

Maria Carolina Costa Melo Svidnicki, PhD, Fernando Ferreira Costa, MD PhD, Sara Teresinha Olalla Saad, MD PhD

Blood (2017) 130 (Supplement 1): 2209.

https://doi.org/10.1182/blood.V130.Suppl_1.2209.2209

Published: 2017

Journal Articles

A Rare Case of Pearson's Syndrome with Predominant Hematological Manifestations and Novel Mitochondrial Deletion

Parth Desai, MD MBBS, Annapurna Saksena, MD MBBS, Prasad Sudhir Dange, Richa Gupta, Seema Kapoor, Tejinder Singh

Blood (2017) 130 (Supplement 1): 4958.

https://doi.org/10.1182/blood.V130.Suppl_1.4958.4958

Published: 2017

Journal Articles

Impact of Red Blood Cell Transfusion Intensity on Progression-Free Survival in Lower-Risk MDS Patients Included in the European Leukemianet MDS Registry

Blood (2017) 130 (Supplement 1): 1690.

https://doi.org/10.1182/blood.V130.Suppl_1.1690.1690

Published: 2017

Journal Articles

Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia

Geling Li, Lee M. Hilliard

Blood (2017) 129 (8): 1057.

https://doi.org/10.1182/blood-2016-11-752717

Published: 2017

Journal Articles

Elevated Labile Plasma Iron Levels (LPI) and Increased Oxidative Stress Are Associated with Red Blood Cell Transfusions in Patients with Lower-Risk Myelodysplastic Syndromes (MDS) Subtitle: from the European Leukemianet MDS Registry

Marlijn Hoeks, MD, Saskia Langemeijer, MD PhD, Louise De Swart, MD, Tim Bagguley, Corine van Marrewijk, PhD, David Bowen, MD PhD, Jaroslav Cermak, Eva Hellstrom-Lindberg, MD PhD, Aurelia Tatic, MD, Argiris Symeonidis, Marian G.J. Van Kraaij, MD PhD, Panagiotis Panagiotidis, Hege Garelius, MD, Dominic J Culligan, Marta Krejci, MD PhD, Jackie Droste, PhD, Alexandra Smith, PhD, Dorine W. Swinkels, MD PhD, Theo de Witte, MD PhD

Blood (2016) 128 (22): 4327.

https://doi.org/10.1182/blood.V128.22.4327.4327

Published: 2016

Journal Articles

Prospective Evaluation of the Effect of Deferasirox on Hematologic Response in Transfusion-Dependent Patients with Low-Risk MDS and Iron Overload: The Rythmex Study

Christian Rose, MD, Olivier Fitoussi, MD, Emmanuel Gyan, MD PhD, Maya Hacini, MD, Shanti Amé, MD, Bernadette Corront, MD, Odile Beyne-Rauzy, MD PhD, Didier Innocent Adiko, MD, Elena-Anca Loppinet, MD, Nadia Ali-Ammar, MD, Eric Wattel, MD PhD, Francois Dreyfus, MD, Stéphane Cheze, MD PhD

Blood (2016) 128 (22): 2008.

https://doi.org/10.1182/blood.V128.22.2008.2008

Published: 2016

Journal Articles

Oxidatively Modified Serotransferrin in Refractory Anemia with Ring Sideroblasts

Alzbeta Hlavackova, PhD, MSc., Jana Stikarova, PhD, MSc., Jiri Suttnar, PhD, MSc., Roman Kotlin, PhD, MSc., Pavel Majek, PhD, MSc., Leona Chrastinova, PhD, MSc., Ondrej Pastva, MSc, Jaroslav Cermak, MD PhD, Jan E. Dyr, prof., PhD, MSc., DSc.

Blood (2016) 128 (22): 5502.

https://doi.org/10.1182/blood.V128.22.5502.5502

Published: 2016

Journal Articles

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Daniel A. Lichtenstein, Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, Paul J. Schmidt, Charlotte M. Niemeyer, John Porter, Alison May, Mrinal M. Patnaik, Matthew M. Heeney, Alec Kimmelman, Sylvia S. Bottomley, Barry H. Paw, Kyriacos Markianos, Mark D. Fleming

Blood (2016) 128 (15): 1913–1917.

https://doi.org/10.1182/blood-2016-05-719062

Published: 2016

Includes: Supplemental data

NARROW

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Characterization of Congenital Sideroblastic Anemia Model Due to ABCB7 Defects: How Do Defects in Iron-Sulfur Cluster Metabolism Lead to Ring Sideroblast Formation?

Proton Pump Inhibition for Secondary Hemochromatosis in Hereditary Anemia, a Phase III Placebo Controlled Randomized Cross-over Trial in Progress

The molecular genetics of sideroblastic anemia

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Generation and Molecular Characterization of Human Ring Sideroblasts

Hepcidin and Erythroferrone in the Anemia of Low-Risk Myelodysplastic Syndromes

First-in-Human Mitochondrial Augmentation of Hematopoietic Stem Cells in Pearson Syndrome

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Generation of Patient-Derived Human Induced Pluripotent Stem Cells in X-Linked Sideroblastic Anemia and Novel Therapeutic Strategies

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

Screening of Mutations Related to Hereditary Anemias Using NGS-Targeted Sequencing Panel

A Rare Case of Pearson's Syndrome with Predominant Hematological Manifestations and Novel Mitochondrial Deletion

Impact of Red Blood Cell Transfusion Intensity on Progression-Free Survival in Lower-Risk MDS Patients Included in the European Leukemianet MDS Registry

Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia

Elevated Labile Plasma Iron Levels (LPI) and Increased Oxidative Stress Are Associated with Red Blood Cell Transfusions in Patients with Lower-Risk Myelodysplastic Syndromes (MDS) Subtitle: from the European Leukemianet MDS Registry

Prospective Evaluation of the Effect of Deferasirox on Hematologic Response in Transfusion-Dependent Patients with Low-Risk MDS and Iron Overload: The Rythmex Study

Oxidatively Modified Serotransferrin in Refractory Anemia with Ring Sideroblasts

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

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American Society of Hematology

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American Society of Hematology

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