ReviewInternational journal of molecular sciences2021
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Clinical feature and genetic analysis ofFrontiers in genetics · 2023Pooled it
- Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge.Clinical case reports · 2026Article
- Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.Journal of medical case reports · 2026Article
- Constipation with megacolon or acute porphyria.Gastroenterology report · 2026Article
- Animal Models of Porphyria with Hepatic Involvement.Seminars in liver disease · 2025Review
- Pathogenesis and clinical management of liver damage in porphyrias: Mechanisms and therapeutic approaches.World journal of hepatology · 2025Review
- An easily overlooked disease in the early stages: acute intermittent porphyria.BMC neurology · 2025Article
- A novelFrontiers in genetics · 2025Article
- Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation.Molecular genetics and metabolism reports · 2024Article
- Dopamine synthesis and transport: current and novel therapeutics for parkinsonisms.Biochemical Society transactions · 2024Review
- Article
- Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.American journal of human genetics · 2023Article
- Article
- Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.Journal of clinical medicine · 2023Article
- A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female.Cureus · 2023Article
- Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to humanFrontiers in molecular biosciences · 2023Article
- Functional and structural analysis of a novel splice siteFrontiers in genetics · 2023Article
- Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.Biomedicines · 2022Article
- Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.FEBS open bio · 2022Article
- Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment.Life (Basel, Switzerland) · 2022Review
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 3 institutions in 2 countries.
Funding
Abstract
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.