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Journal Articles

Validation of Hemolytic Anemia Codes in the French Hospital Database

Julien Maquet, Hélène Derumeaux, MD PhD, Maryse Lapeyre-Mestre, MD PhD, Laurent Sailler, MD PhD, Guillaume Moulis, MD PhD

Blood (2019) 134 (Supplement_1): 3460.

https://doi.org/10.1182/blood-2019-124697

Published: 2019

Journal Articles

Untargeted Metabolomics on Dried Blood Spots for the Diagnosis and Clinical Follow up of Rare Hereditary Anemias

Birgit van Dooijeweert, MD, Melissa Broeks, Msc, Judith Jans, PhD, Eduard J. van Beers, MD PhD, Nanda Verhoeven, PhD, Richard van Wijk, PhD, Marije Bartels, MD PhD

Blood (2019) 134 (Supplement_1): 3376.

https://doi.org/10.1182/blood-2019-131693

Published: 2019

Journal Articles

Use of Next Generation Sequencing Panel for Routine Diagnosis of Hereditary Hemolytic Anemias

Archana M Agarwal, MD, Jay L Patel, MD, Adam Clayton, PhD, Noel Scott Reading, PhD

Blood (2018) 132 (Supplement 1): 2325.

https://doi.org/10.1182/blood-2018-99-112589

Published: 2018

Journal Articles

MGTA-456, a First-in-Class Cell Therapy Produced from a Single Cord Blood Unit, Enables a Reduced Intensity Conditioning Regimen and Enhances Speed and Level of Human Microglia Engraftment in the Brains of NSG Mice

Kevin A. Goncalves, PhD, Shuping Li, PhD, Melissa L. Brooks, BS, Sharon L. Hyzy, MS, Anthony E. Boitano, PhD, Michael P. Cooke, PhD

Blood (2018) 132 (Supplement 1): 115.

https://doi.org/10.1182/blood-2018-99-118258

Published: 2018

Journal Articles

Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease

Arshi Naz, PhD, Qurat Abedin, M.Sc, Shariq Ahmed, MPhil, Saima Siddiqui, FCPS, Tahir Shamsi

Blood (2018) 132 (Supplement 1): 4952.

https://doi.org/10.1182/blood-2018-99-120385

Published: 2018

Journal Articles

Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm

William Morello, MD, Mirella Filocamo, Marina Stroppiano, Maja Di Rocco, MD, Nicola Tovaglieri, MD, Giovanna Russo, MD, Francesca Furlan, MD, Roberta Burnelli, MD, Andrea Pession, MD

Blood (2017) 130 (Supplement 1): 1187.

https://doi.org/10.1182/blood.V130.Suppl_1.1187.1187

Published: 2017

Journal Articles

Erythroid and Cardiovascular High Altitude-Selected Haplotypes in Andean Aymaras and Tibetans

Ricardo Amaru, MD, Jihyun Song, PhD, Noel S Reading, Victor R. Gordeuk, MD, Teddy Quispe, Msc, Lorna Moore, PhD, Rasmus Nielsen, PhD, Josef T. Prchal, MD

Blood (2017) 130 (Supplement 1): 2205.

https://doi.org/10.1182/blood.V130.Suppl_1.2205.2205

Published: 2017

Journal Articles

Explore: A Prospective, Multinational Natural History Study of Patients with Acute Hepatic Porphyrias (AHP) with Recurrent Attacks

Blood (2017) 130 (Supplement 1): 2211.

https://doi.org/10.1182/blood.V130.Suppl_1.2211.2211

Published: 2017

Journal Articles

Glucose-6-Phosphate Dehydrogenase Deficiency in Blood Donors Is Associated with Decreased Post-Transfusion Red Cell Recovery

Richard O Francis, MD PhD, Danamarie Belpulsi, MD, Mark Soffing, PharmD, Randy Yeh, MD, Esther E Coronel, MD, Arif Sheikh, MD, Steven Spitalnik, MD, Eldad A. Hod, MD

Blood (2017) 130 (Supplement 1): 706.

https://doi.org/10.1182/blood.V130.Suppl_1.706.706

Published: 2017

Journal Articles

Congenital Methemoglobinemia Under Diagnosed Condition with Variiable Therapeurtic Options

Mohamed A. Yassin, MBBS,MSc,CABM,FACP,MSC, Dina Sameh Soliman, PhD

Blood (2017) 130 (Supplement 1): 4746.

https://doi.org/10.1182/blood.V130.Suppl_1.4746.4746

Published: 2017

Journal Articles

The Reference Levels of Glucose-6-Phosphate Dehydrogenase Enzyme Activity for Infants in Taiwan

Meng-Ju Li, MD, M. Sci, Wen-Chien Yang, MD, Shin Tai, Chu-Ling Hsu, Pei-Lan Shao, MD, PhD, Ching-Tien Peng, MD PhD

Blood (2017) 130 (Supplement 1): 4741.

https://doi.org/10.1182/blood.V130.Suppl_1.4741.4741

Published: 2017

Journal Articles

Using a Next Generation Sequencing Panel to Discover the Obscure Causes of Hereditary Hemolytic Anemias

Archana M Agarwal, MD, N. Scott Reading, PhD, Kimberly Frizzell, PhD, Wei Shen, PhD, Shelly Sorrells, PhD, Mohamed E Salama, MD, Josef T. Prchal, MD, Hassan M. Yaish, Jay L Patel, MD, Robert D. Christensen, MD

Blood (2016) 128 (22): 2433.

https://doi.org/10.1182/blood.V128.22.2433.2433

Published: 2016

Journal Articles

Alu-Element Insertion in Pklr Gene As a Novel Cause of Severe Hereditary Nonspherocytic Hemolytic Anemia

Harry Lesmana, MD, Lisa Dyer, PhD, Ping Zhou, Xia Li, PhD, James Denton, MS, Satheesh Chonat, MD, Kejian Zhang, MD MBA, Robert J. Hopkin, MD, Theodosia A. Kalfa, MD PhD

Blood (2015) 126 (23): 3349.

https://doi.org/10.1182/blood.V126.23.3349.3349

Published: 2015

Journal Articles

Persistence of Imiglucerase in Cell Compartment Explains Dosing Frequency of Every Two Weeks in Type 1 Gaucher Disease

Juliette Berger, PhD, Marie Vigan, PhD, Jérôme Stirnemann, PD, PhD Professor, Céline Bourgne, PhD, Alexandre Janel, PhD, Nadia Belmatoug, MD, Christian Rose, MD, Monia Bengherbia, Bruno Pereira, France Mentré, MD PhD Professor, Marc G Berger, MD PhD

Blood (2014) 124 (21): 1396.

https://doi.org/10.1182/blood.V124.21.1396.1396

Published: 2014

Journal Articles

The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Hereditary Hemolytic Anemias

Roberto H Nussenzveig, PhD, Nikhil Sangle, MD, Robert D. Christensen, MD, Mohamed E Salama, MD, Josef Prchal, MD, Hassan Yaish, MD, Archana M Agarwal, MD

Blood (2013) 122 (21): 3421.

https://doi.org/10.1182/blood.V122.21.3421.3421

Published: 2013

Journal Articles

Adenosine Is A Common Factor Regulating Erythrocyte 2,3-Bisphosphate Induction In Normal Individuals At High Altitude and In Patients With Sickle Cell Disease

Yujin Zhang, Ph.D, Hong Liu, Kaiqi Sun, Anren Song, Ph.D, Harry Karmouty-Quintana, Ph.D, Ning-Yuan Chen, Almut Grenz, MD; Ph.D, Rodney E. Kellems, Modupe Idowu, MD, Harinder S. Juneja, MD, Robert Roach, Ph.D, Holger Eltzschig, Ph.D, Michael R. Blackburn, Ph.D, Yang Xia

Blood (2013) 122 (21): 952.

https://doi.org/10.1182/blood.V122.21.952.952

Published: 2013

Journal Articles

Correction of Immune and Enzyme Deficiency by Bone Marrow Transplant in PNP Deficient SCID

Vikramajit Singh, MRCP, Robert Wynn, MD, Denise Bonney, PhD, Stephen Hughes, MD, Kay Poulton, PhD, Helena Lee, PhD

Blood (2011) 118 (21): 4556.

https://doi.org/10.1182/blood.V118.21.4556.4556

Published: 2011

Journal Articles

In Vivo Monitoring of Red Cell Redox Status to Screen for Potential Hematotoxicity of Anti-Malarial Drugs

Xiuling Xu, PhD, Jeff S. Friedman, MD, PhD

Blood (2011) 118 (21): 2099.

https://doi.org/10.1182/blood.V118.21.2099.2099

Published: 2011

Journal Articles

The Uptake of Recombinant Glucocerebrosidases by Blood Monocytes From Type 1 Gaucher Disease Patients Is Heterogeneous

Juliette Berger, Jérome Stirnemann, MD, PhD, Céline Bourgne, Bruno Pereira, Pascale Pigeon, Djazia Heraoui, Chantal Rapatel, Christian Rose, MD, PhD, Nadia Belmatoug, MD, Marc G Berger, MD, PhD

Blood (2011) 118 (21): 1102.

https://doi.org/10.1182/blood.V118.21.1102.1102

Published: 2011

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

NARROW

Validation of Hemolytic Anemia Codes in the French Hospital Database

Untargeted Metabolomics on Dried Blood Spots for the Diagnosis and Clinical Follow up of Rare Hereditary Anemias

Use of Next Generation Sequencing Panel for Routine Diagnosis of Hereditary Hemolytic Anemias

MGTA-456, a First-in-Class Cell Therapy Produced from a Single Cord Blood Unit, Enables a Reduced Intensity Conditioning Regimen and Enhances Speed and Level of Human Microglia Engraftment in the Brains of NSG Mice

Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease

Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm

Erythroid and Cardiovascular High Altitude-Selected Haplotypes in Andean Aymaras and Tibetans

Explore: A Prospective, Multinational Natural History Study of Patients with Acute Hepatic Porphyrias (AHP) with Recurrent Attacks

Glucose-6-Phosphate Dehydrogenase Deficiency in Blood Donors Is Associated with Decreased Post-Transfusion Red Cell Recovery

Congenital Methemoglobinemia Under Diagnosed Condition with Variiable Therapeurtic Options

The Reference Levels of Glucose-6-Phosphate Dehydrogenase Enzyme Activity for Infants in Taiwan

Using a Next Generation Sequencing Panel to Discover the Obscure Causes of Hereditary Hemolytic Anemias

Alu-Element Insertion in Pklr Gene As a Novel Cause of Severe Hereditary Nonspherocytic Hemolytic Anemia

Persistence of Imiglucerase in Cell Compartment Explains Dosing Frequency of Every Two Weeks in Type 1 Gaucher Disease

The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Hereditary Hemolytic Anemias

Adenosine Is A Common Factor Regulating Erythrocyte 2,3-Bisphosphate Induction In Normal Individuals At High Altitude and In Patients With Sickle Cell Disease

Correction of Immune and Enzyme Deficiency by Bone Marrow Transplant in PNP Deficient SCID

In Vivo Monitoring of Red Cell Redox Status to Screen for Potential Hematotoxicity of Anti-Malarial Drugs

The Uptake of Recombinant Glucocerebrosidases by Blood Monocytes From Type 1 Gaucher Disease Patients Is Heterogeneous

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

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American Society of Hematology

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American Society of Hematology

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