Associated Papers
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Merati M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
40485347 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Supplemental_Table3
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
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y et al.
Nature Communications, 2016
27507172 (PubMed )
Supplement: ncomms12353-s1.pdf
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
Frank J et al.
The Journal of Investigative Dermatology, 2001
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Whatley SD et al.
American Journal of Human Genetics, 1999
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