ReviewDiagnostics (Basel, Switzerland)2021
Laboratory Diagnosis of Porphyria.
Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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.
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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.
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Who cites it
29 citing papers in PubMed.
- Article
- Updates to gene-disease classifications and inheritance patterns for porphyrias.Molecular genetics and metabolism · 2026Article
- New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.Journal of internal medicine · 2026Article
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.Hepatology communications · 2025Review
- Acute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood.ACG case reports journal · 2025Article
- Protoporphyrin IX plasma and blood pharmacokinetics and brain tumor distribution determined by a validated LC-MS/MS method.Scientific reports · 2025Article
- Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria.The Journal of dermatology · 2025Article
- Practical recommendations for biochemical and genetic diagnosis of the porphyrias.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Hepatoerythropoietic Porphyria with CoexistingEuropean journal of case reports in internal medicine · 2025Article
- Porphyria cutanea tarda: a unique iron-related disorder.Hematology. American Society of Hematology. Education Program · 2024Review
- German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.Journal of clinical medicine · 2024Article
- Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation.Molecular genetics and metabolism reports · 2024Article
- Article
- Unraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis.Cureus · 2024Article
- Protoporphyrin IX in serum of high-grade glioma patients: A novel target for disease monitoring via liquid biopsy.Scientific reports · 2024Article
- Atypical presentation of pellagra with black urine: A clinical conundrum.SAGE open medical case reports · 2024Article
- Porphyrinuria in Autism Spectrum Disorder: A Review.Current medicinal chemistry · 2024Review
- Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria.Life (Basel, Switzerland) · 2023Article
- Nutritional Interventions withInternational journal of molecular sciences · 2023Article
- A case report of acute intermittent porphyria leading to severe disability.Frontiers in neurology · 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
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying pre-symptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results.
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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.