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

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

Annals of clinical biochemistry - 1 Sept 2018

Lambie Deborah, Florkowski Chris, Sies Chris, Raizis Anthony, Siu Wai-Kwan, Towns Cindy

Abstract excerpt

A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135-145) and she had fluctuating hypertension. Acute porphyria was suspected and confirmed with raised urine porphobilinogen/creatinine ratio of 12:4 μmol/mmoL (reference...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Early Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Young Adult

Source

Identifiers

PMID: 29660996
DOI: 10.1177/0004563218774597

Variants

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

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp).PMID 29660996Read ↗

Hereditary coproporphyria.Semantic proximity Read ↗

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.Semantic proximity Read ↗

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.Semantic proximity Read ↗

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

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.Semantic proximity Read ↗

[Advances in the diagnosis and treatment of porphyria-related hepatic manifestations].Semantic proximity Read ↗

Pathogenesis of Refractory SIBO and Oncological Risk in Hereditary Coproporphyria: The Catalytic Role of HFE-Mediated Iron OverloadSemantic proximity Read ↗

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.Semantic proximity Read ↗

Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.Semantic proximity Read ↗

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.Semantic proximity Read ↗

Neonatal Hemolytic Anemia Due to Inherited Harderoporphyria: Clinical Characteristics and Molecular BasisSemantic proximity Read ↗

A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors.Semantic proximity Read ↗

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