ReviewCurrent protocols in human genetics2015
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Review in Current protocols in human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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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
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 157 citations in OpenAlex.
- Clinical feature and genetic analysis ofFrontiers in genetics · 2023Pooled it
- Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.Orphanet journal of rare diseases · 2024Trial
- Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.Orphanet journal of rare diseases · 2022Trial
- Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study.Liver international : official journal of the International Association for the Study of the Liver · 2022Trial
- Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.The Journal of dermatology · 2018Trial
- Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias.American journal of clinical dermatology · 2026Review
- Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.International journal of molecular sciences · 2026Article
- Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge.Clinical case reports · 2026Article
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.Hepatology communications · 2025Review
- Dark green urine following endoscopic ultrasound-guided hepaticogastrostomy: A case report.World journal of gastroenterology · 2025Article
- Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.European journal of human genetics : EJHG · 2025Article
- 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
- A novelFrontiers in genetics · 2025Article
- German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.Journal of clinical medicine · 2024Article
- Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.Orphanet journal of rare diseases · 2024Article
- Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.Seminars in liver disease · 2024Review
- Xenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes.Journal of xenobiotics · 2024Article
- Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.Clinical and experimental gastroenterology · 2024Review
- Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.Pharmacological reviews · 2023Review
- The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease.Seminars in liver disease · 2023Review
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), δ-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoietic porphyria (HEP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and X-linked protoporphyria (XLP). Each porphyria results from overproduction of heme precursors secondary to partial deficiency or, in XLP, increased activity of one of the enzymes of heme biosynthesis. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the most common porphyria, PCT, has a prevalence of 1 in 10,000, the most common acute porphyria, AlP, has a prevalence of ∼1 in 20,000, and the most common erythropoietic porphyria, EPP, is estimated at 1 in 50,000 to 75,000. CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. Only six cases of ADP are documented. The current porphyria literature is very exhaustive and a brief overview of porphyria diseases is essential in order for the reader to better appreciate the relevance of this area of research prior to undertaking biochemical diagnostics procedures. This unit summarizes the current knowledge on the classification, clinical features, etiology, pathogenesis, and genetics of porphyria diseases.
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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.