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Journal Articles

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

Brief Report
Daniel N. Egan, Zhantao Yang, John Phillips, Janis L. Abkowitz
Journal: Blood
Blood (2015) 126 (2): 257–261.
https://doi.org/10.1182/blood-2014-07-584664
Published: 2015
Includes: Supplemental data
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
Journal: Blood
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
Journal: Blood
Blood (2013) 122 (21): 3442.
https://doi.org/10.1182/blood.V122.21.3442.3442
Published: 2013
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
Journal: Blood
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: 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
Journal: Blood
Blood (2010) 115 (5): 1062–1069.
https://doi.org/10.1182/blood-2009-04-218016
Published: 2010
Includes: Supplemental data
Journal Articles

Deciphering Mitochondrial Iron Metabolism Using a Knockout Mouse.

Michael Huang, B.Sc, (Hon), Erika Becker, BSc, Hons, Ph.D, Megan Whitnall, BSc, Hons, Yohan Suryo Rahmanto, BSc, (Hons), Ph.D, Prem Ponka, MD, PhD, Des R. Richardson, PhD, DSc, MSc, BSc
Journal: Blood
Blood (2009) 114 (22): 1995.
https://doi.org/10.1182/blood.V114.22.1995.1995
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
Journal: Blood
Blood (2009) 114 (22): 3014.
https://doi.org/10.1182/blood.V114.22.3014.3014
Published: 2009
Journal Articles

The Uroporphomethene Inhibitor Causitive for Porphyria Cutanea Tarda (PCT) Is Generated by Oxidation of Hydroxymethylbilane (HMB)

John D Phillips, PhD, Hector A Bergonia, Christopher A Reilly, Michael R Franklin, James P Kushner
Journal: Blood
Blood (2008) 112 (11): 3454.
https://doi.org/10.1182/blood.V112.11.3454.3454
Published: 2008
Journal Articles

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

Clinical Trials & Observations
John D. Phillips, David P. Steensma, Michael A. Pulsipher, Gerald J. Spangrude, James P. Kushner
Journal: Blood
Blood (2006) 109 (6): 2618–2621.
https://doi.org/10.1182/blood-2006-06-022848
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
Journal: Blood
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
Journal: Blood
Blood (1998) 92 (11): 4053–4058.
https://doi.org/10.1182/blood.V92.11.4053
Published: 1998