Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variegate porphyria.

Seminars in liver disease - 1 Jan 1998

Kirsch R E, Meissner P N, Hift R J

Abstract excerpt

Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease is found worldwide but has an exceptionally high frequency in South Africa. The gene for human protoporphyrinogen oxidase has been identified and sequenced, and several...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Disease
Share to Flavoproteins
Share to Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 9516676
DOI: 10.1055/s-2007-1007138

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variegate porphyria.PMID 9516676Read ↗

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.Semantic proximity Read ↗

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.Semantic proximity Read ↗

Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.Semantic proximity Read ↗

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.Semantic proximity Read ↗

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.Semantic proximity Read ↗

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyriaSemantic proximity Read ↗

Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examplesSemantic proximity Read ↗

Porphyrias.Semantic proximity Read ↗

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.Semantic proximity Read ↗

Swiss patients with variegate porphyria have unique mutations.Semantic proximity Read ↗

Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.Semantic proximity Read ↗

Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.