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
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Goudet C et al.
Life (basel, Switzerland), 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
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.
Katugampola RP et al.
The British Journal of Dermatology, 2012
[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].
Lebreuilly-Sohyer I et al.
Annales De Dermatologie Et De Venereologie, 2010
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Bishop DF et al.
Blood, 2010
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Fortian A et al.
Biochemistry, 2009
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
Dupuis-Girod S et al.
European Journal of Pediatrics, 2005
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
Shady AA et al.
British Journal of Haematology, 2002
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
Martinez Peinado C et al.
Pediatric Dermatology, 0
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