ReviewBrain and behavior2021
Acute porphyrias - A neurological perspective.
Review in Brain and behavior, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Brazilian Academy of Neurology recommendations for diagnosis, management, and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).Arquivos de neuro-psiquiatria · 2025Guideline
- King George's Psychosis: A Case Report of Neuroporphyria in an Acute Psychiatric Inpatient Unit.Cureus · 2026Article
- A Case Report of Acute Intermittent Porphyria Accompanied by Severe Peripheral Neuropathy.Diagnostics (Basel, Switzerland) · 2026Article
- Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge.Clinical case reports · 2026Article
- Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report.BMC neurology · 2026Article
- Article
- Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.Orphanet journal of rare diseases · 2026Article
- Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.Iranian journal of pathology · 2026Article
- Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study.European journal of neurology · 2025Article
- Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.The American journal of case reports · 2025Article
- Porphyria presenting as posterior reversible encephalopathy syndrome.Acta neurologica Belgica · 2025Article
- An easily overlooked disease in the early stages: acute intermittent porphyria.BMC neurology · 2025Article
- Blood-CSF barrier clearance of ABC transporter substrates is suppressed by interleukin-6 in lupus choroid plexus spheroids.Fluids and barriers of the CNS · 2025Article
- Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.Metabolites · 2025Review
- Features of Undiagnosed Abdominal Pain and Diagnostic Status of Acute Hepatic Porphyria in Japan: A Retrospective Study.International journal of medical sciences · 2025Observational
- Beginning of a new era of synthetic messenger RNA therapeutics: Comprehensive insights on mRNA drug design, development and applications.Experimental biology and medicine (Maywood, N.J.) · 2025Review
- Porphyric encephalopathy in a 15-year-old girl: A case report.SAGE open medical case reports · 2025Article
- Gene-based therapies for neuromuscular disorders.Arquivos de neuro-psiquiatria · 2024Article
- Neuralgic Amyotrophy and Hourglass Nerve Constriction/Nerve Torsion: Two Sides of the Same Coin? A Clinical Review.Brain sciences · 2024Review
- German Porphyria Registry (PoReGer)-Background and Setup.Healthcare (Basel, Switzerland) · 2024Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon-like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA-dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain-Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology.
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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.