Associated Papers
Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.
Honda M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
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
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations.
Moghe A et al.
Molecular Genetics and Metabolism Reports, 2019
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.
Kim DH et al.
Journal of Biochemistry, 2013
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A et al.
Journal of Inherited Metabolic Disease, 2011
Erythropoietic and hepatic porphyrias.
Gross U et al.
Journal of Inherited Metabolic Disease, 2000
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