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Article

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.

The British journal of dermatology - 1 Mar 1990

Kószó F, Elder G H, Roberts A, Simon N

Abstract excerpt

Catalytic and immunoreactive erythrocyte uroporphyrinogen decarboxylase was measured in a woman with hepatoerythropoietic porphyria (HEP). The uroporphyrinogen decarboxylase activity was 24% of the mean value for normal controls and the concentration of the immunoreactive enzyme (106 ng/mgHb), measured with the rocket immunoelectrophoresis technique, did not differ from that of healthy controls. Consequently,...

Topics

Carboxy-Lyases
Erythrocytes
Female
Humans
Immunoelectrophoresis
Liver Diseases
Mutation
Porphyrias
Skin Diseases
Uroporphyrinogen Decarboxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 2322500
DOI: 10.1111/j.1365-2133.1990.tb08285.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2322500-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.PMID 2322500Read ↗

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Identification of a new mutation responsible for hepatoerythropoietic porphyria.Semantic proximity Read ↗

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