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

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.

The American journal of case reports - 4 Nov 2022

Sriprakoon Vachiravit, Ittagornpunth Chalisa, Puapaiboon Nakorn, Bunyahathaipat Aekasit, Piriyanon Punnapat, Khositseth Sookkasem, Rojnueangnit Kitiwan

Abstract excerpt

BACKGROUND Acute intermittent porphyria (AIP) is a rare genetic disease caused by the deficiency of porphobilinogen deaminase enzyme in the heme synthesis pathway. AIP is passed by autosomal dominant inheritance. Heterozygous pathogenic variants in hydroxymethylbilane synthase (HMBS) are associated with AIP. Multisystemic manifestations of acute neurovisceral features exist, which are quite challenging for...

Read the complete abstract on PubMed

Topics

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

Share to Hydroxymethylbilane Synthase
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Porphyria, Acute Intermittent

Share to Thailand

Source

Open in PubMed Open full text

Identifiers

PMID: 36329616
DOI: 10.12659/AJCR.937695
PMCID: PMC9641550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.PMID 36329616Read ↗

Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report.Semantic proximity Read ↗

Recent advances in the epidemiology and genetics of acute intermittent porphyriaSemantic proximity Read ↗

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

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild AnemiaSemantic proximity Read ↗

Identification and molecular analysis of 17 novel hydroxymethylbilane synthase mutations in 69 Chinese patients with acute intermittent porphyriaSemantic proximity Read ↗

A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.Semantic proximity Read ↗

HMBS mutations in Chinese patients with acute intermittent porphyria.Semantic proximity Read ↗

Acute Intermittent Porphyria in children: A case report and review of the literature.Semantic proximity Read ↗

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.Semantic proximity Read ↗

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

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.Semantic proximity Read ↗

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.Semantic proximity Read ↗

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