ArticleOxford medical case reports2024
Congenital erythropoietic porphyria five years observation with standard treatment: a case report.
Article in Oxford medical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed, 1 citations in OpenAlex.
- Burden of illness and unmet needs in patients with erythropoietic protoporphyria and X-linked protoporphyria: A large US nationwide claims analysis.Journal of managed care & specialty pharmacy · 2025Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Porphyrias are a group of diseases characterized by a deficiency of enzymes in the haem biosynthetic pathway. Congenital Erythropoietic porphyria is a rare autosomal-recessive disorder lacking uroporphyrinogen III synthase. This inherited deficiency results in accumulating uroporphyrinogen I and coproporphyrinogen I in the bone marrow, skin, bones, and other tissues, ultimately excreted via urine and faeces. Clinical manifestations include severe photosensitivity on open body parts with blisters, scarring, hypertrichosis, and mutilations. We describe the first case of CEP in Armenia, with a diagnosis performed in Centre Francais Des (LBMR) Porphyries (France, Paris). It concerns a 22-year-old Armenian man suffering from photosensitivity, excessive hair growth, mutilation, and pink urine discolouration. The five years of follow-up have revealed worsening symptomatology despite preventative measures and demonstrate that standard recommendations did not alleviate the patient's deteriorating conditions. A cure with an allogeneic haematopoietic stem cell transplant is under strong consideration.
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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.