ArticleAnnals of translational medicine2022
Acute intermittent porphyria: prevalence of pathogenic
Article in Annals of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Clinical feature and genetic analysis ofFrontiers in genetics · 2023Pooled it
- Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report.BMC neurology · 2026Article
- Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan.Orphanet journal of rare diseases · 2025Article
- Pathogenesis and clinical management of liver damage in porphyrias: Mechanisms and therapeutic approaches.World journal of hepatology · 2025Review
- Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.Orphanet journal of rare diseases · 2024Article
- A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria.Clinical case reports · 2023Article
- Severe Abdominal Pain After Bariatric Surgery: Think Twice-Think Porphyria!Obesity surgery · 2023Article
- A case report of acute intermittent porphyria leading to severe disability.Frontiers in neurology · 2023Article
- Functional and structural analysis of a novel splice siteFrontiers in genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Acute intermittent porphyria (AIP) is a rare inherited disorder with extremely low prevalence. Early detection of patients with potential pathogenic hydroxymethylbilane synthase ( Methods: The China Metabolic Analysis Project (ChinaMAP) database was employed to predict the prevalence of pathogenic Results: A total of 5 pathogenic/likely pathogenic (P/LP) Conclusions: China has made great strides in the management of AIP. More nationwide epidemiological surveys and study of the prevalence rate of AIP patients in China are urgently required.
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Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.