Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.
Bhusal M et al.
Jaad Case Reports, 2021
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
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Blouin JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
Pandey M et al.
Journal of Pediatric Hematology/oncology, 2013
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient.
Thien Kim DH et al.
Case Reports in Dermatology, 2013
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
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
Moghbeli M et al.
Molecular Biology Reports, 2012
Erythrodontia in congenital erythropoietic porphyria.
Bhavasar R et al.
Journal of Oral and Maxillofacial Pathology : Jomfp, 2011
Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.
Kang TW et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Fortian A et al.
Biochemistry, 2009
Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
Wiederholt T et al.
Physiological Research, 2006
Porphyrias: Uncommon disorders masquerading as common childhood diseases.
Chakraborty A et al.
Journal of Postgraduate Medicine, 0