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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

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

Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1

Blood (2022) 139 (16): 2534–2546.

https://doi.org/10.1182/blood.2021013753

Published: 2022

Includes: Supplemental data

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

Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan

Erina Nakahara, Keiko Yamamoto, Takako Aoki, Hiromi Ogura, Taiju Utsugisawa, Hiroyuki Akagawa, Toshiyuki Yamamoto, Yoshiro Maru, Fumihiko Nakamura, Hiroshi Yagasaki, Etsuro Ito, Shouichi Ohga, Hitoshi Kanno

Blood (2021) 138 (Supplement 1): 1996.

https://doi.org/10.1182/blood-2021-152599

Published: 2021

Journal Articles

Baseline Characteristics of Patients in Peak: A Global, Longitudinal Registry of Patients with Pyruvate Kinase Deficiency

Rachael F. Grace, MD, Audra Boscoe, PhD, Chris Bowden, MD, Bertil Glader, MD PhD, Hitoshi Kanno, MDPhD, D. Mark Layton, MB BS, Eduard van Beers, MD PhD, Joan-Lluis Vives Corrons, MD PhD, Yan Yan, MS, Paola Bianchi, BSc, PhD

Blood (2020) 136 (Supplement 1): 39–40.

https://doi.org/10.1182/blood-2020-136634

Published: 2020

Journal Articles

An Ongoing Global, Longitudinal, Observational Study of Patients with Pyruvate Kinase Deficiency: The PEAK Registry

Rachael F. Grace, MD, Paola Bianchi, BSc, PhD, Bertil Glader, MD PhD, Andreas Glenthøj, MD PhD, Bryan Jones, PhD, Hitoshi Kanno, MD PhD, Kevin H. M. Kuo, MDMSc,FRCPC, D. Mark Layton, MB ChB, Eduard J. van Beers, MD PhD, Joan-Lluis Vives Corrons, MD PhD, Tu Xu, MS, PhD

Blood (2019) 134 (Supplement_1): 2223.

https://doi.org/10.1182/blood-2019-123059

Published: 2019

Journal Articles

Ex-Vivo Expanded NK Cell Therapy Combined with Elotuzumab for MRD after Autologous Stem Cell Transplantation: A Phase I/ II Clinical Trial in Progress

Shotaro Hagiwara, MD PhD, Yan-Hua Wang, MD, Hirohito Kobayashi, MD, Yutaka Kato, MD, Norina Tanaka, MD PhD, Yuki Iizuka, MD, Aya Watanabe, MD, Midori Ishiyama, MD PhD, Akihito Shinohara, MD PhD, Hiroshi Kazama, MD PhD, Kentaro Yoshinaga, MD PhD, Masayuki Shiseki, MD PhD, Hitoshi Kanno, MD PhD, Junji Tanaka, MD PhD

Blood (2019) 134 (Supplement_1): 3133.

https://doi.org/10.1182/blood-2019-127739

Published: 2019

Journal Articles

The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis

Taiju Utsugisawa, MD PhD, Takuya Iwasaki, MLS, Takako Aoki, MLS, Yoshio Okamoto, MLS, Takahiro Kawakami, MD PhD, Hiromi Ogura, MD PhD, Hitoshi Kanno, MDPhD

Blood (2017) 130 (Supplement 1): 929.

https://doi.org/10.1182/blood.V130.Suppl_1.929.929

Published: 2017

Journal Articles

Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes

Blood (2017) 130 (Supplement 1): 2468.

https://doi.org/10.1182/blood.V130.Suppl_1.2468.2468

Published: 2017

Journal Articles

Dysregulated Transcriptional Upregulation of Cell-Cycle Regulators By KLF1 Mutation E325K Induces Cell-Cycle Arrest in Erythroid Cells Differentiated from the Congenital Dyserythropoietic Anemia (CDA)-Patient Specific Induced Pluripotent Stem Cells

Hiroshi Kohara, PhD, Taiju Utsugisawa, MD PhD, Hiromi Ogura, MD PhD, Ai Sugawara, B.Sc., Ogawa Yoshie, M.Sc., Chika Sakamoto, M.Sc., Hitoshi Kanno, MDPhD, Kenzaburo Tani, MD PhD

Blood (2017) 130 (Supplement 1): 2197.

https://doi.org/10.1182/blood.V130.Suppl_1.2197.2197

Published: 2017

Journal Articles

Identification of a Digenic Inheritance of Pklr and KLF1 Mutations Resulting in Hemolytic Anemia in a Neonate from a Study of Genotype-Phenotype Correlation of Globin, Pklr and KLF1 in Thai Patients with Pyruvate Kinase (PK) Deficiency

Supachai Ekwattanakit, BSc, PhD MD, Suchada Riolueang, M.Sc., Kalaya Tachavanich, Hitoshi Kanno, MDPhD, Vip Viprakasit, MD DPhil, Thidarat Suksangpleng, PhD, Vorravarn S Tanphaichitr

Blood (2017) 130 (Supplement 1): 3477.

https://doi.org/10.1182/blood.V130.Suppl_1.3477.3477

Published: 2017

Journal Articles

Generation and Functional Analysis of Congenital Dyserythropoietic Anemia (CDA) Patient-Specific Induced Pluripotent Stem Cells

Hiroshi Kohara, PhD, Hiromi Ogura, MD PhD, Takako Aoki, MLS, Chika Sakamoto, Yoshie Ogawa, Shohei Miyamoto, PhD, Hitoshi Kanno, MD PhD, Kenzaburo Tani, MD PhD

Blood (2016) 128 (22): 2426.

https://doi.org/10.1182/blood.V128.22.2426.2426

Published: 2016

Journal Articles

The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia

Hiromi Ogura, MD PhD, Toshiyuki Yamamoto, MD PhD, Taiju Utsugisawa, MD PhD, Takako Aoki, MLS, Takuya Iwasaki, MLS, Yumiko Ondo, MLS, Takahiro Kawakami, MD PhD, Shinichiro Nakagawa, MD PhD, Shuichi Ozono, MD PhD, Hiroko Inada, MD PhD, Hitoshi Kanno, MD PhD

Blood (2016) 128 (22): 400.

https://doi.org/10.1182/blood.V128.22.400.400

Published: 2016

Journal Articles

COL4A1 is a Novel Causative Gene Responsible for Congenital Hemolytic Anemia, Representing Characteristic Clinical Course in Infants

Hiromi Ogura, MD PhD, Shouichi Ohga, MD PhD, Takako Aoki, MLS, Taiju Utsugisawa, MDPhD, Hidehiro Takahashi, MDPhD, Asayuki Iwai, Kenichiro Watanabe, MD PhD, Yusuke Okuno, MD PhD, Kenichi Yoshida, MD PhD, Satoru Miyano, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD, Hitoshi Kanno, MD PhD

Blood (2015) 126 (23): 934.

https://doi.org/10.1182/blood.V126.23.934.934

Published: 2015

Journal Articles

ATP11C Encodes a Major Flippase in Human Erythrocyte and Its Genetic Defect Causes Congenital Non-Spherocytic Hemolytic Anemia

Nobuto Arashiki, PhD, Yuichi Takakuwa, MD PhD, Hiromi Ogura, MD PhD, Taiju Utsugisawa, MDPhD, Satoru Miyano, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD, Shouichi Ohga, MD PhD, Narla Mohandas, DSc, Hitoshi Kanno, MD PhD

Blood (2015) 126 (23): 2131.

https://doi.org/10.1182/blood.V126.23.2131.2131

Published: 2015

Journal Articles

Elevated Red Cell Reduced Glutathione Is a Novel Biomarker of Diamond-Blackfan Anemia

Taiju Utsugisawa, MDPhD, Toshitaka Uchiyama, PhD, Hiromi Ogura, MDPhD, Takako Aoki, Isao Hamaguchi, MD PhD, Akira Ishiguro, MD PhD, Akira Ohara, MD PhD, Seiji Kojima, MD PhD, Shouichi Ohga, MDPhD, Etsuro Ito, MDPhD, Hitoshi Kanno, MDPhD

Blood (2014) 124 (21): 1342.

https://doi.org/10.1182/blood.V124.21.1342.1342

Published: 2014

Journal Articles

Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

Vip Viprakasit, Supachai Ekwattanakit, Suchada Riolueang, Nipon Chalaow, Chris Fisher, Karen Lower, Hitoshi Kanno, Kalaya Tachavanich, Sasithorn Bejrachandra, Jariya Saipin, Monthana Juntharaniyom, Kleebsabai Sanpakit, Voravarn S. Tanphaichitr, Duantida Songdej, Christian Babbs, Richard J. Gibbons, Sjaak Philipsen, Douglas R. Higgs

Blood (2014) 123 (10): 1586–1595.

https://doi.org/10.1182/blood-2013-09-526087

Published: 2014

Includes: Supplemental data

Journal Articles

Identification of Two New DBA Genes, RPS27 and RPL27 , by Whole-Exome Sequencing in Diamond-Blackfan Anemia Patients

Blood (2012) 120 (21): 984.

https://doi.org/10.1182/blood.V120.21.984.984

Published: 2012

NARROW

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

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

Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1

Characterizing Iron Overload By Age in Patients Diagnosed with Pyruvate Kinase Deficiency - a Descriptive Analysis from the Peak Registry

Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan

Baseline Characteristics of Patients in Peak: A Global, Longitudinal Registry of Patients with Pyruvate Kinase Deficiency

An Ongoing Global, Longitudinal, Observational Study of Patients with Pyruvate Kinase Deficiency: The PEAK Registry

Ex-Vivo Expanded NK Cell Therapy Combined with Elotuzumab for MRD after Autologous Stem Cell Transplantation: A Phase I/ II Clinical Trial in Progress

The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis

Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes

Dysregulated Transcriptional Upregulation of Cell-Cycle Regulators By KLF1 Mutation E325K Induces Cell-Cycle Arrest in Erythroid Cells Differentiated from the Congenital Dyserythropoietic Anemia (CDA)-Patient Specific Induced Pluripotent Stem Cells

Identification of a Digenic Inheritance of Pklr and KLF1 Mutations Resulting in Hemolytic Anemia in a Neonate from a Study of Genotype-Phenotype Correlation of Globin, Pklr and KLF1 in Thai Patients with Pyruvate Kinase (PK) Deficiency

Generation and Functional Analysis of Congenital Dyserythropoietic Anemia (CDA) Patient-Specific Induced Pluripotent Stem Cells

The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia

COL4A1 is a Novel Causative Gene Responsible for Congenital Hemolytic Anemia, Representing Characteristic Clinical Course in Infants

ATP11C Encodes a Major Flippase in Human Erythrocyte and Its Genetic Defect Causes Congenital Non-Spherocytic Hemolytic Anemia

Elevated Red Cell Reduced Glutathione Is a Novel Biomarker of Diamond-Blackfan Anemia

Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

Identification of Two New DBA Genes, RPS27 and RPL27 , by Whole-Exome Sequencing in Diamond-Blackfan Anemia Patients

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American Society of Hematology

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American Society of Hematology

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