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Article

Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells.

Journal of molecular medicine (Berlin, Germany) - 1 May 2003

Géronimi F, Richard E, Lamrissi-Garcia I, Lalanne M, Ged C, Redonnet-Vernhet I, Moreau-Gaudry F, de Verneuil H

Abstract excerpt

Congenital erythropoietic porphyria (CEP) is an inherited disease due to a deficiency in the uroporphyrinogen III synthase, the fourth enzyme of the heme biosynthesis pathway. It is characterized by accumulation of uroporphyrin I in the bone marrow, peripheral blood and other organs. The prognosis of CEP is poor, with death often occurring early in adult life. For severe transfusion-dependent cases, when...

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PMID: 12721665
DOI: 10.1007/s00109-003-0438-7

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UROS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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