Kongenitale erythropoetische Porphyrie-Reference-Cited by-同舟云学术

Kongenitale erythropoetische Porphyrie

Published:2015-12-02 Issue:3 Volume:67 Page:216-220
ISSN:0017-8470
Container-title:Der Hautarzt
language:de
Short-container-title:Hautarzt

Author:

Wenner C.,Neumann N.J.,Frank J.

Publisher

Springer Science and Business Media LLC

Subject

Dermatology

Link

http://link.springer.com/content/pdf/10.1007/s00105-015-3732-8.pdf

Reference16 articles.

1. Bishop DF et al (2011) Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Mol Med 17(7–8):748–756

2. Ged C et al (2009) Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. Cell Mol Biol (Noisy-le-grand) 55(1):53–60

3. Glomglao W et al (2015) Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria. Int J Lab Hematol 37(2):e44–e47

4. Di Pierro E et al (2015) Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. Eur J Haematol 94(6):491–497

5. Wiederholt T et al (2006) Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria. Physiol Res 55(Suppl 2):S85–S92

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