Associated Papers
Congenital erythropoietic porphyria.
To-Figueras J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Clinically important features of porphyrin and heme metabolism and the porphyrias.
Besur S et al.
Metabolites, 2014
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
Bishop DF et al.
Molecular Medicine (cambridge, Mass.), 2011
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Fortian A et al.
Biochemistry, 2009
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Xu W et al.
Human Mutation, 1996
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Fontanellas A et al.
European Journal of Human Genetics : Ejhg, 1996
Identification of two new mutations in congenital erythropoietic porphyria.
Bensidhoum M et al.
European Journal of Human Genetics : Ejhg, 1995
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
Warner CA et al.
The Journal of Clinical Investigation, 1992
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Boulechfar S et al.
Human Genetics, 1992
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