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

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

The Australasian journal of dermatology - 1 May 2013

Rudd Alice, Grant Janine, Varigos George, Morgan Vanessa, Winship Ingrid

Abstract excerpt

The porphyrias are a group of inherited disorders that result in defects in the enzymes of the haem biosynthetic pathway, causing photosensitive bullous skin eruptions or abdominal and neurological attacks. Enzymatic defects result in specific porphyrin excretory patterns that are diagnosed bioch...

Read the complete abstract on PubMed

Topics

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

Share to Feces
Share to Genetic Testing
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Porphyria Cutanea Tarda

Share to Porphyrins

Source

Identifiers

PMID: 23582006
DOI: 10.1111/j.1440-0960.2011.00875.x

Genes

CPOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23582006-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.PMID 23582006Read ↗

Hereditary coproporphyria.Semantic proximity Read ↗

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

Role of genetic testing in the management of patients with inherited porphyria and their families.Semantic proximity Read ↗

Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.Semantic proximity Read ↗

[Laboratory tests and therapeutic strategies for the porphyrias].Semantic proximity Read ↗

The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.Semantic proximity Read ↗

Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.Semantic proximity Read ↗

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

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp).Semantic proximity Read ↗

Modern diagnosis and management of the porphyriasSemantic proximity Read ↗

X-linked dominant protoporphyria: a new porphyria.Semantic proximity Read ↗

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