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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
Journal: Blood
Blood (2017) 130 (Supplement 1): 938.
https://doi.org/10.1182/blood.V130.Suppl_1.938.938
Published: 2017
Journal Articles

Establishment and Characterization of in Vitro Model of X-Linked Sideroblastic Anemia

Kei Saito, Tohru Fujiwara, MD PhD, Shunsuke Hatta, MD PhD, Yoko Okitsu, MD PhD, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Yukio Nakamura, MD PhD, Hideo Harigae, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 171.
https://doi.org/10.1182/blood.V130.Suppl_1.171.171
Published: 2017
Journal Articles

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Yvette Y Yien, PhD, Gael Nicolas, PhD, Lisa van der Vorm, Laurent Gouya, MD PhD, Hector Begonia, Martin Kafina, Jean-Charles Deybach, MD PhD, Tania Baker, PhD, Julia Kardon, PhD, John D. Phillips, PhD, Hervé Puy, MD PhD, Barry H. Paw, MD, PhD
Journal: Blood
Blood (2016) 128 (22): 77.
https://doi.org/10.1182/blood.V128.22.77.77
Published: 2016
Journal Articles

Generation of Induced Pluripotent Stem Cell-Derived Erythroblasts from a Patient with X-Linked Sideroblastic Anemia

Shunsuke Hatta, MD, PhD, Tohru Fujiwara, MD, PhD, Takako Yamamoto, Mayumi Kamata, MD, Yoshiko Tamai, Yukio Nakamura, MD, PhD, Shin Kawamata, Hideo Harigae, MD PhD
Journal: Blood
Blood (2016) 128 (22): 76.
https://doi.org/10.1182/blood.V128.22.76.76
Published: 2016
Journal Articles

Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia

Tohru Fujiwara, MD PhD, Ryoyu Niikuni, Koji Okamoto, Yoko Okitsu, MD PhD, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Kenichi Ishizawa, MD PhD, Ryo Ichinohasama, MD PhD, Yukio Nakamura, MD, PhD, Tohru Tanaka, PhD, Hideo Harigae, MD PhD
Journal: Blood
Blood (2014) 124 (21): 215.
https://doi.org/10.1182/blood.V124.21.215.215
Published: 2014
Journal Articles

Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency.

Yoshiko Murakami, MD, PhD, Peter M Krawitz, MD, PhD, Peter N Robinson, MD, PhD, Stefan Mundlos, MD, PhD, Yusuke Maeda, MD, PhD, Taroh Kinoshita, PhD
Journal: Blood
Blood (2010) 116 (21): 2031.
https://doi.org/10.1182/blood.V116.21.2031.2031
Published: 2010
Journal Articles

Transfusion Independence Achieved in a Case of Diamond Blackfan Anaemia by Essential Amino Acid Supplementation

Diana Wright, Sarah Ball, Josu de la Fuente
Journal: Blood
Blood (2008) 112 (11): 4119.
https://doi.org/10.1182/blood.V112.11.4119.4119
Published: 2008
Journal Articles

Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia

GR Buchanan, SS Bottomley, R Nitschke
Journal: Blood
Blood (1980) 55 (1): 109–115.
https://doi.org/10.1182/blood.V55.1.109.109
Published: 1980