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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
Journal: Blood
Blood (2019) 134 (Supplement_1): 3746.
https://doi.org/10.1182/blood-2019-125199
Published: 2019
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
Journal: Blood
Blood (2018) 132 (Supplement 1): 1024.
https://doi.org/10.1182/blood-2018-99-113773
Published: 2018
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
Journal: Blood
Blood (2017) 130 (Supplement 1): 4958.
https://doi.org/10.1182/blood.V130.Suppl_1.4958.4958
Published: 2017
Journal Articles

An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure

Corey P. Falcon, Thomas H. Howard
Journal: Blood
Blood (2017) 129 (19): 2710.
https://doi.org/10.1182/blood-2017-02-766881
Published: 2017
Journal Articles

Clinico-Pathological Features and Outcomes in Patients with Congenital Sideroblastic Anemias

Leah Ann Schmelkin, BS, Matthew T Howard, MD, David P. Steensma, MD, Mark D. Fleming, MD DPhil, Vilmarie Rodriguez, MD, Shakila Khan, MD, Naseema Gangat, MBBS, Alexandra Wolanskyj, MD, Mrinal M Patnaik, MBBS
Journal: Blood
Blood (2015) 126 (23): 3355.
https://doi.org/10.1182/blood.V126.23.3355.3355
Published: 2015
Journal Articles

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter
Journal: Blood
Blood (2014) 124 (3): 312–313.
https://doi.org/10.1182/blood-2014-04-571687
Published: 2014
Journal Articles

Derivation of Disease-Free Induced Pluripotent Stem Cells From Patients with Pearson Marrow Pancreas Syndrome

Suneet Agarwal, M.D., Ph.D., Anne B.C. Cherry, Erin M. McLoughlin, Paul H. Lerou, M.D., Justine D. Miller, Hongguang Huo, Odelya Hartung, Rebecca L. Zon, Mark D. Fleming, M.D., D.Phil., Tan A. Ince, M.D., Ph.D., Ellis J. Neufeld, M.D., Ph.D., George Q. Daley, M.D., Ph.D.
Journal: Blood
Blood (2010) 116 (21): 3.
https://doi.org/10.1182/blood.V116.21.3.3
Published: 2010
Journal Articles

Systematic Analysis of Known Candidate Genes in 58 Probands with Previously Uncharacterized Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations in ALAS2 and PUS1

Anke K. Neuwirth, Dean R. Campagna, Mark D. Fleming, Sylvia S. Bottomley, Ellis J. Neufeld
Journal: Blood
Blood (2008) 112 (11): 484.
https://doi.org/10.1182/blood.V112.11.484.484
Published: 2008