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

Role of genetic testing in the management of patients with inherited porphyria and their families.

Annals of clinical biochemistry - 1 May 2013

Whatley S D, Badminton M N

Abstract excerpt

The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably...

Read the complete abstract on PubMed

Topics

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

Share to Diagnosis, Differential
Share to Family
Share to Folate and B Vitamins Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Heme Oxygenase-1 and Carbon Monoxide

Share to Mutation

Share to Porphyrias

Share to Porphyrin Metabolism and Disorders

Source

Identifiers

PMID: 23605133
DOI: 10.1177/0004563212473278

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

Role of genetic testing in the management of patients with inherited porphyria and their families.PMID 23605133Read ↗

Modern diagnosis and management of the porphyriasSemantic proximity Read ↗

Valuable insights from molecular genetic studies in the porphyrias.Semantic proximity Read ↗

The genetic bases of the porphyrias.Semantic proximity Read ↗

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

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

Molecular mechanisms of dominant expression in porphyriaSemantic proximity Read ↗

Update on enzyme and molecular defects in porphyria.Semantic proximity Read ↗

What is the role of genetic testing in diagnosis of haemochromatosis?Semantic proximity Read ↗

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

Penetrance and predictive value of genetic screening in acute porphyria.Semantic proximity Read ↗

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