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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

Blood (2016) 128 (22): 77.

https://doi.org/10.1182/blood.V128.22.77.77

Published: 2016

Journal Articles

Iron and erythropoietic porphyrias

Elisabeth I. Minder, Jasmin Barman-Aksözen

Blood (2015) 126 (2): 130–132.

https://doi.org/10.1182/blood-2015-05-646737

Published: 2015

Journal Articles

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

Daniel N. Egan, Zhantao Yang, John Phillips, Janis L. Abkowitz

Blood (2015) 126 (2): 257–261.

https://doi.org/10.1182/blood-2014-07-584664

Published: 2015

Includes: Supplemental data

Journal Articles

Post-Transplant Cyclophosphamide Following Myeloablative Peripheral Blood Stem Cell Transplantation: A Single Institutional Experience

Racquel Innis-Shelton, MD, Donna Salzman, MD, Antonio Di Stasi, MD, Lawrence S. Lamb, PhD, Melissa Gazi, Lisa Williams, RN, Luciano J Costa, MD PhD, Harry Erba, Shin Mineishi, MD, Ayman Saad, MD

Blood (2014) 124 (21): 3911.

https://doi.org/10.1182/blood.V124.21.3911.3911

Published: 2014

Journal Articles

Heme-Related Blood Disorders

Hervé Puy, Sr., MD, PhD, Karim Zoubida, PhD, Lyoumi Said, PhD, Lydie M. Da Costa, MD, PhD, Gouya Laurent, MD, PhD

Blood (2013) 122 (21): SCI-18.

https://doi.org/10.1182/blood.V122.21.SCI-18.SCI-18

Published: 2013

Journal Articles

Inducing Iron Deficiency Dramatically Improves Erythropoiesis and Photosensitivity In Congenital Erythropoietic Porphyria (CEP)

Daniel N. Egan, MD, Zhantao Yang, MD, John Phillips, PhD, Janis L. Abkowitz, MD

Blood (2013) 122 (21): 3442.

https://doi.org/10.1182/blood.V122.21.3442.3442

Published: 2013

Journal Articles

The porphyrias: advances in diagnosis and treatment

Manisha Balwani, Robert J. Desnick

Blood (2012) 120 (23): 4496–4504.

https://doi.org/10.1182/blood-2012-05-423186

Published: 2012

Journal Articles

Linking Transcription Factor Pathways to Disease-Causing GATA1 Mutations

Amy E Campbell, Gerd A. Blobel, MD, PhD

Blood (2011) 118 (21): 2371.

https://doi.org/10.1182/blood.V118.21.2371.2371

Published: 2011

Journal Articles

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Jordi To-Figueras, Sarah Ducamp, Jerome Clayton, Celia Badenas, Constance Delaby, Cecile Ged, Said Lyoumi, Laurent Gouya, Hubert de Verneuil, Carole Beaumont, Gloria C. Ferreira, Jean-Charles Deybach, Carmen Herrero, Herve Puy

Blood (2011) 118 (6): 1443–1451.

https://doi.org/10.1182/blood-2011-03-342873

Published: 2011

Includes: Supplemental data

Journal Articles

Congenital Erythropoietic Porphyria Due to Co-Inheritance of GATA1 and UROS Gene Mutations

Zeynep Karakas, MD, Chiara Refaldi, Valentina Brancaleoni, Ismail Kurt, MD, Elena Di Pierro, PhD, Maria Domenica Cappellini, MD

Blood (2010) 116 (21): 3208.

https://doi.org/10.1182/blood.V116.21.3208.3208

Published: 2010

Journal Articles

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

David F. Bishop, Xiaoye Schneider-Yin, Sonia Clavero, Han-Wook Yoo, Elisabeth I. Minder, Robert J. Desnick

Blood (2010) 115 (5): 1062–1069.

https://doi.org/10.1182/blood-2009-04-218016

Published: 2010

Includes: Supplemental data

Journal Articles

Transfusion Requirements IN RED CELL Disorders.

Prathima Venkatachalam, MBBS, MRCP, Quentin Hill, MBBS, MRCP, FRCPath

Blood (2009) 114 (22): 4193.

https://doi.org/10.1182/blood.V114.22.4193.4193

Published: 2009

Journal Articles

Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model.

Sonia Clavero, PhD, David F Bishop, PhD, Mark E Haskins, VMD, PhD, Raili Kauppinen, MD, PhD, Urs Giger, PD, DMV, Robert J Desnick, MD

Blood (2009) 114 (22): 3014.

https://doi.org/10.1182/blood.V114.22.3014.3014

Published: 2009

Journal Articles

Platelet Pathology in Carriers of X-Linked GATA-1 Macrothrombocyopenia.

James G. White, MD

Blood (2007) 110 (11): 3198.

https://doi.org/10.1182/blood.V110.11.3198.3198

Published: 2007

Journal Articles

Congenital erythropoietic porphyria due to a mutation in GATA1 : the first trans -acting mutation causative for a human porphyria

John D. Phillips, David P. Steensma, Michael A. Pulsipher, Gerald J. Spangrude, James P. Kushner

Blood (2006) 109 (6): 2618–2621.

https://doi.org/10.1182/blood-2006-06-022848

Published: 2006

Journal Articles

MRI Evidence of Cardiac Iron Accumulation in Myelodysplasia and Unusual Anaemias.

Julie Glanville, Perla Eleftheriou, John Porter

Blood (2006) 108 (11): 1553.

https://doi.org/10.1182/blood.V108.11.1553.1553

Published: 2006

Journal Articles

Platelet Pathology in GATA-1 Dyserythropoietic Macrothrombocytopenia.

James G. White, MD, David P. Steensma, MD, William L. Nichols, MD

Blood (2006) 108 (11): 1102.

https://doi.org/10.1182/blood.V108.11.1102.1102

Published: 2006

Journal Articles

Congenital Erythropoietic Porphyria, β-Thalassemia Intermedia and Thrombocytopenia Due to a GATA1 Mutation.

John D. Phillips, PhD, David P. Steensma, MD, Gerald J. Spangrude, PhD, James P. Kushner, MD

Blood (2005) 106 (11): 515.

https://doi.org/10.1182/blood.V106.11.515.515

Published: 2005

Journal Articles

Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation

I. Tezcan, W. Xu, A. Gurgey, M. Tuncer, M. Cetin, C. Öner, S. Yetgin, F. Ersoy, G. Aizencang, K.H. Astrin, R.J. Desnick

Blood (1998) 92 (11): 4053–4058.

https://doi.org/10.1182/blood.V92.11.4053

Published: 1998

Journal Articles

Congenital Erythropoietic Porphyria. II. The Effects of Induced Polycythemia

ROBERT G. HAINING, M.D., MARILYN L. COWGER, M.D., ROBERT F. LABBE, PH.D., CLEMENT A. FINCH, M.D.

Blood (1970) 36 (3): 297–309.

https://doi.org/10.1182/blood.V36.3.297.297

Published: 1970

NARROW

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Iron and erythropoietic porphyrias

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

Post-Transplant Cyclophosphamide Following Myeloablative Peripheral Blood Stem Cell Transplantation: A Single Institutional Experience

Heme-Related Blood Disorders

Inducing Iron Deficiency Dramatically Improves Erythropoiesis and Photosensitivity In Congenital Erythropoietic Porphyria (CEP)

The porphyrias: advances in diagnosis and treatment

Linking Transcription Factor Pathways to Disease-Causing GATA1 Mutations

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Congenital Erythropoietic Porphyria Due to Co-Inheritance of GATA1 and UROS Gene Mutations

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Transfusion Requirements IN RED CELL Disorders.

Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model.

Platelet Pathology in Carriers of X-Linked GATA-1 Macrothrombocyopenia.

Congenital erythropoietic porphyria due to a mutation in GATA1 : the first trans -acting mutation causative for a human porphyria

MRI Evidence of Cardiac Iron Accumulation in Myelodysplasia and Unusual Anaemias.

Platelet Pathology in GATA-1 Dyserythropoietic Macrothrombocytopenia.

Congenital Erythropoietic Porphyria, β-Thalassemia Intermedia and Thrombocytopenia Due to a GATA1 Mutation.

Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation

Congenital Erythropoietic Porphyria. II. The Effects of Induced Polycythemia

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American Society of Hematology

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American Society of Hematology

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