Associated Papers
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Heme biosynthesis and the porphyrias.
Phillips JD
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
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Katugampola RP et al.
The British Journal of Dermatology, 2012
The porphyrias: pathophysiology.
Pietrangelo A
Internal and Emergency Medicine, 2010
Select a paper to view details