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Article

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

Molecular genetics and metabolism - 1 Jun 2005

To-Figueras Jordi, Badenas Celia, Enríquez Maria T, Segura Sonia, Alvarez Concepción, Milà Montserrat, Lecha Marius, Herrero Carmen

Abstract excerpt

We report a biochemical and genetic characterization of four cases of hereditary coproporphyria (HCP) in Spain. All patients showed a typical HCP porphyrin excretion pattern with a high concentration of coproporphyrins in feces and inverted I:III isomer ratio. The porphyrin precursors in urine were found elevated in two patients who showed acute symptoms. The analysis of the CPO gene showed that three cases...

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PMID: 15896662
DOI: 10.1016/j.ymgme.2004.12.012

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CPO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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