Literature DB >> 3960070

Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions.

S Piomelli, M B Poh-Fitzpatrick, C Seaman, L M Skolnick, W E Berdon.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 3960070     DOI： 10.1056/NEJM198604173141607

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  12 in total

Review 1.  [Congenital erythropoietic porphyria : An update].

Authors:  C Wenner; N J Neumann; J Frank
Journal:  Hautarzt       Date:  2016-03       Impact factor: 0.751

Review 2.  Erythropoietic protoporphyria.

Authors:  T M Cox
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

3.  Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.

Authors:  Daniel N Egan; Zhantao Yang; John Phillips; Janis L Abkowitz
Journal:  Blood       Date:  2015-05-13       Impact factor: 22.113

Review 4.  Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Authors:  Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2019-01-18       Impact factor: 4.797

5.  Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of 3 cases.

Authors:  M Levesque; P Legmann; A Le Cloirec; J C Deybach; Y Nordmann
Journal:  Pediatr Radiol       Date:  1988

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

Authors:  David F Bishop; Xiaoye Schneider-Yin; Sonia Clavero; Han-Wook Yoo; Elisabeth I Minder; Robert J Desnick
Journal:  Blood       Date:  2009-11-24       Impact factor: 22.113

7.  Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

Authors:  David F Bishop; Annika Johansson; Robert Phelps; Amr A Shady; Maria C M Ramirez; Makiko Yasuda; Andres Caro; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2006-02-09       Impact factor: 11.025

Review 8.  Congenital erythropoietic porphyria: Recent advances.

Authors:  Angelika L Erwin; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2018-12-27       Impact factor: 4.797

Review 9.  The porphyrias: advances in diagnosis and treatment.

Authors:  Manisha Balwani; Robert J Desnick
Journal:  Blood       Date:  2012-07-12       Impact factor: 22.113

10.  Neonatal hemolytic anemia does not always indicate thalassemia: a case report.

Authors:  Arwa A Al-Harazi; Bilguis M Al-Eryani; Butheinah A Al-Sharafi
Journal:  BMC Res Notes       Date:  2017-09-12
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.