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Journal Articles

Glucose-6-phosphate dehydrogenase deficiency

Lucio Luzzatto, Mwashungi Ally, Rosario Notaro

Blood (2020) 136 (11): 1225–1240.

https://doi.org/10.1182/blood.2019000944

Published: 2020

Includes: Supplemental data

Journal Articles

Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations

Kimberly Lezon-Geyda, PhD, Melissa J. Rose, DO, Melissa A. McNaull, MD, Christine M. Knoll, MD, Hassan M. Yaish, MD, Yves D. Pastore, MD, Elisa Fermi, Bertil Glader, MD, Paola Bianchi, BSc, PhD, Rachael F. Grace, MD, Patrick G. Gallagher, MD

Blood (2018) 132 (Supplement 1): 3607.

https://doi.org/10.1182/blood-2018-99-117805

Published: 2018

Journal Articles

Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency

Oscar Quintana Bustamante, PhD, Sara Fañanas-Baquero, Daniel P. Dever, PhD, Alberquilla Omaira, Joab Camarena, BS, Rebeca Sanchez-Dominguez, PhD, Matias Morin, Val Fernandez, Miguel Angel Moreno-Pelayo, Juan A. Bueren, PhD, Matthew Porteus, MD PhD, Jose C Segovia, PhD

Blood (2018) 132 (Supplement 1): 5792.

https://doi.org/10.1182/blood-2018-99-111772

Published: 2018

Journal Articles

The First Reported Case of Prenatal Diagnosis for Pyruvate Kinase Deficiency in a Chinese Family

Jason CC So, MBBS, Mary Tang, MBBS, Rever Li, MBBS, Shau Yin Ha, MBBS, Serge Pissard, PhD, Li Chong Chan, MBChB, PhD

Blood (2011) 118 (21): 5276.

https://doi.org/10.1182/blood.V118.21.5276.5276

Published: 2011

Journal Articles

Generation of Induced Pluripotent Stem Cells From the Peripheral Blood of a Pyruvate Kinase Decifient Patient

Oscar Quintana-Bustamante, Zita Garate, Jose Carlos Segovia, PhD, Laura Cerrato, Guillermo Güenechea, Juan Bueren

Blood (2011) 118 (21): 4713.

https://doi.org/10.1182/blood.V118.21.4713.4713

Published: 2011

Journal Articles

A Somatic Mutation in the G6PD Gene in Hematopoietic Cells Causes a Chronic Haemolytic Anemia.

Loïc Garçon, Gérard Tertian, Audrey Boutron, Françoise Driss, Stéphane Giraudier, William Vainchenker, MD, PhD, Michel Goossens, MD, Frederic Galacteros, MD, PhD, Gil Tchernia, MD, Claude Préhu

Blood (2009) 114 (22): 4033.

https://doi.org/10.1182/blood.V114.22.4033.4033

Published: 2009

Journal Articles

Alpha Hemoglobin Stabilizing Protein (AHSP) Is a Susceptibility Gene to Drug /Infection-Induced Hemolytic Anemia.

Hitoshi Kanno, MD, PhD, Naoyuki Kamatani, MD, PhD, Takako Hamada, Kaori Furihata, PhD, Yukio Hattori, MD, PhD, Shiro Miwa, MD, PhD, Hisaichi Fujii, MD, PhD

Blood (2005) 106 (11): 1678.

https://doi.org/10.1182/blood.V106.11.1678.1678

Published: 2005

Journal Articles

Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression

Amalia Diez, Florinda Gilsanz, Joaquin Martinez, Susana Pérez-Benavente, Néstor W. Meza, José M. Bautista

Blood (2005) 106 (5): 1851–1856.

https://doi.org/10.1182/blood-2005-02-0555

Published: 2005

Journal Articles

Red Cell Pyruvate Kinase Deficiency: Molecular Characterization of 10 New Variants.

Elisa Fermo, Paola Bianchi, Cristina Vercellati, Frederic Cotton, Alberto Zanella

Blood (2004) 104 (11): 1590.

https://doi.org/10.1182/blood.V104.11.1590.1590

Published: 2004

Journal Articles

Gene Therapy of the Human Erythrocyte Pyruvate Kinase Deficiency.

Jose C. Segovia, PhD, Nestor W. Meza Fellow, Oscar Quintana-Bustamante Fellow, Antonio Puyet, PhD, Paula Rio, PhD, Juan A. Bueren, PhD, Jose M. Bautista, PhD

Blood (2004) 104 (11): 1635.

https://doi.org/10.1182/blood.V104.11.1635.1635

Published: 2004

Journal Articles

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Joan-Lluis Vives Corrons, Estefania Garcia, Joan J. Tusell, Kottayil I. Varughese, Carol West, Ernest Beutler

Blood (2003) 102 (1): 353–356.

https://doi.org/10.1182/blood-2002-07-2288

Published: 2003

Journal Articles

Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Elı́sio Costa, José Manuel Cabeda, Emilia Vieira, Rui Pinto, Susana Aires Pereira, Leonor Ferraz, Rosário Santos, José Barbot

Blood (2000) 95 (4): 1499–1501.

https://doi.org/10.1182/blood.V95.4.1499.004k02_1499_1501

Published: 2000

Journal Articles

Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections

Dirk Roos, Rob van Zwieten, Juul T. Wijnen, Felix Gómez-Gallego, Martin de Boer, David Stevens, Claudia J. Pronk-Admiraal, Thea de Rijk, Cornelis J.F. van Noorden, Ron S. Weening, Tom J. Vulliamy, J. Eduard Ploem, Philip J. Mason, José M. Bautista, P. Meera Khan, Ernest Beutler

Blood (1999) 94 (9): 2955–2962.

https://doi.org/10.1182/blood.V94.9.2955

Published: 1999

NARROW

Glucose-6-phosphate dehydrogenase deficiency

Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations

Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency

The First Reported Case of Prenatal Diagnosis for Pyruvate Kinase Deficiency in a Chinese Family

Generation of Induced Pluripotent Stem Cells From the Peripheral Blood of a Pyruvate Kinase Decifient Patient

A Somatic Mutation in the G6PD Gene in Hematopoietic Cells Causes a Chronic Haemolytic Anemia.

Alpha Hemoglobin Stabilizing Protein (AHSP) Is a Susceptibility Gene to Drug /Infection-Induced Hemolytic Anemia.

Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression

Red Cell Pyruvate Kinase Deficiency: Molecular Characterization of 10 New Variants.

Gene Therapy of the Human Erythrocyte Pyruvate Kinase Deficiency.

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections

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American Society of Hematology

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ASH Publications

American Society of Hematology

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