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Article

Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.

Blood - 15 Dec 2001

Takeuchi H, Kondo M, Daimon M, Susa S, Ueoka K, Uemura O, Togari H

Abstract excerpt

The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for harderoporphyria seems to...

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PMID: 11739202
DOI: 10.1182/blood.v98.13.3871

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Related research

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Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.PMID 11739202Read ↗

Neonatal Hemolytic Anemia Due to Inherited Harderoporphyria: Clinical Characteristics and Molecular BasisSemantic proximity Read ↗

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.Semantic proximity Read ↗

Male pseudohermaphroditism.Semantic proximity Read ↗

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.Semantic proximity Read ↗

Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma.Semantic proximity Read ↗

The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.Semantic proximity Read ↗

Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.Semantic proximity Read ↗

Comparison of Immunocytochemical and Molecular Features with the Phenotype in a Case of Incomplete Male Pseudohermaphroditism Associated with a Mutation of the Luteinizing Hormone Receptor1Semantic proximity Read ↗

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