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
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Goudet C et al.
Life (basel, Switzerland), 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
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria with erythrodontia: A case report.
Ciftci V et al.
International Journal of Paediatric Dentistry, 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
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E et al.
British Journal of Haematology, 2016
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS et al.
Current Protocols in Human Genetics, 2015
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient.
Thien Kim DH et al.
Case Reports in Dermatology, 2013
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
Molecular genetics of congenital erythropoietic porphyria.
Desnick RJ et al.
Seminars in Liver Disease, 1998
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
Takamura N et al.
American Journal of Medical Genetics, 1997
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
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
Xu W et al.
The Journal of Clinical Investigation, 1995