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Harderoporphyria

National Institutes of Health

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Hereditary Coproporphyria

Papers overview

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2019
2019
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations
2018
2018
P137 Abdominal and neurologic pain in Harderoporphyria: a case report
2017
2017
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria… 
2013
2013
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.
Hereditary coproporphyria (HCP) is an autosomal dominant-inherited disease of haem biosynthesis caused by partial deficiency of… 
2005
2005
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
Hereditary coproporphyria (HCP), an autosomal dominant acute hepatic porphyria, results from mutations in the gene that encodes… 
Highly Cited
2005
Highly Cited
2005
Structural basis of hereditary coproporphyria.
Hereditary coproporphyria is an autosomal dominant disorder resulting from the half-normal activity of coproporphyrinogen oxidase… 
Highly Cited
2001
Highly Cited
2001
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and…
Hereditary coproporphyria (HCP) is the least common of the autosomal dominant acute hepatic porphyrias. It results from mutations… 
2001
2001
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.
The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have… 
1998
1998
Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.
Porphyrias, a group of inborn errors of heme synthesis, are classified as hepatic or erythropoietic according to clinical data… 
Review
1990
Review
1990
Book review
G. Harderoporphyria: A variant hereditary coproporphyria. J. Clin. Invest. 72 (1983) 11391149 Schwartz, S., Berg, M. H… 
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