Associated Papers
Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
Kajikawa D et al.
Neonatology, 2025
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
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.
Grodecká L et al.
Plos One, 2014
24586880 (PubMed )
Supplement: pone.0089570.s004.xlsx › exon_border_not_preserved
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 erythropoietic porphyria: a single-observer clinical study of 29 cases.
Katugampola RP et al.
The British Journal of Dermatology, 2012
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
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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