PMC Links for Books (Select 3052224) - PMC - NCBI

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Items: 9

Select item 79279931.

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Arienne Mirmiran, Antoine Poli, Cecile Ged, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raêd Daher, Boualem Moulouel, Katell Peoc'h, Sylvie Simonin, Jean-Marc Blouin, Jean-Charles Deybach, Gaël Nicolas, Hervé Puy, Emmanuel Richard, Laurent Gouya

Haematologica. 2021 Mar 1; 106(3): 913–917. Published online 2020 Jan 9. doi: 10.3324/haematol.2019.228270

PMCID:: PMC7927993

Article PDF–911K

Select item 78902992.

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard

Mol Genet Metab Rep. 2021 Jun; 27: 100722. Published online 2021 Feb 11. doi: 10.1016/j.ymgmr.2021.100722

PMCID:: PMC7890299

Abstract Article PDF–3.1M

Select item 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 44979654.

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

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

Blood. 2015 Jul 9; 126(2): 257–261. Prepublished online 2015 May 13. doi: 10.1182/blood-2014-07-584664

PMCID:: PMC4497965

Abstract Article

Select item 18522025.

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. 2007 Mar 15; 109(6): 2618–2621. Prepublished online 2006 Dec 5. doi: 10.1182/blood-2006-06-022848

PMCID:: PMC1852202

Abstract Article

Select item 16744436.

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

R W Pain, F W Welch, A J Woodroffe, D A Handley, W H Lockwood

Br Med J. 1975 Sep 13; 3(5984): 621–623. doi: 10.1136/bmj.3.5984.621

PMCID:: PMC1674443

Summary Page Browse PDF–656K

Select item 14246957.

Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions

David F. Bishop, Annika Johansson, Robert Phelps, Amr A. Shady, Maria C. M. Ramirez, Makiko Yasuda, Andres Caro, Robert J. Desnick

Am J Hum Genet. 2006 Apr; 78(4): 645–658. Published online 2006 Feb 9. doi: 10.1086/502667

PMCID:: PMC1424695

Abstract Article PDF–2.6M

Select item 4429048.

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

C A Warner, H W Yoo, A G Roberts, R J Desnick

J Clin Invest. 1992 Feb; 89(2): 693–700. doi: 10.1172/JCI115637

PMCID:: PMC442904

Summary Page Browse PDF–1.7M

Select item 2089419.

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

Constanza Solis, Gerardo I. Aizencang, Kenneth H. Astrin, David F. Bishop, Robert J. Desnick

J Clin Invest. 2001 Mar 15; 107(6): 753–762. doi: 10.1172/JCI10642

PMCID:: PMC208941

Abstract Article PDF–330K

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