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
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS et al.
Current Protocols in Human Genetics, 2015
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Katugampola RP et al.
The British Journal of Dermatology, 2012
Porphyria in Switzerland, 15 years experience.
Schneider-Yin X et al.
Swiss Medical Weekly, 2009
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
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