Works matching DE "ERYTHROPOIETIC porphyria"
Results: 67
Congenital erythropoietic porphyria five years observation with standard treatment: a case report.
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- Oxford Medical Case Reports, 2024, v. 2024, n. 1, p. 1, doi. 10.1093/omcr/omad151
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- Article
Morphological identification of haematopoietic cells in pronephros of common carp (Cyprinus carpio Linnaeus, 1758).
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- Acta Biologica Szegediensis, 2016, v. 60, n. 2, p. 113
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- Article
Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.
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- Biomolecules (2218-273X), 2024, v. 14, n. 1, p. 27, doi. 10.3390/biom14010027
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- Article
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
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- 2015
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- Letter to the Editor
Twelve-year follow-up of bone marrow transplantation in congenital erythropoietic porphyria: lessons learned from a challenging case.
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- Clinical & Experimental Dermatology, 2023, v. 48, n. 10, p. 1187, doi. 10.1093/ced/llad219
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- Article
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
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- Clinical & Experimental Dermatology, 2016, v. 41, n. 8, p. 953, doi. 10.1111/ced.12932
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- Article
Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.
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- 2023
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- Case Study
Recurrent blistering in an infant!
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- Journal of Paediatrics & Child Health, 2023, v. 59, n. 4, p. 702, doi. 10.1111/jpc.1_16044
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- Article
Blastic plasmacytoid dendritic cell neoplasm following acquired erythropoietic protoporphyria.
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- Baylor University Medical Center Proceedings, 2017, v. 30, n. 4, p. 450, doi. 10.1080/08998280.2017.11930225
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- Article
An Atypical Case of Congenital Erythropoietic Porphyria.
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- Genes, 2021, v. 12, n. 11, p. 1828, doi. 10.3390/genes12111828
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- Article
Causal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.
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- PLoS ONE, 2024, v. 19, n. 3, p. 1, doi. 10.1371/journal.pone.0299536
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- Article
'... they had interpreted "disability" as referring to a patently visible disability': experience of a patient group with NICE.
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- Disability & Society, 2022, v. 37, n. 7, p. 1239, doi. 10.1080/09687599.2022.2060804
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- Article
An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis.
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- 2019
- Publication type:
- Case Study
Congenital Erythropoietic Porphyria with Undescended Testis.
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- Indian Journal of Dermatology, 2016, v. 61, n. 4, p. 466, doi. 10.4103/0019-5154.185749
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- Article
Dark Age Vampires or Our Poor Patients.
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- Indian Journal of Dermatology, 2013, v. 58, n. 5, p. 518, doi. 10.4103/0019-5154.117375
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- Article
A Case of Congenital Erythropoietic Porphyria without Hemolysis.
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- Indian Journal of Dermatology, 2013, v. 58, n. 5, p. 441, doi. 10.4103/0019-5154.117336
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- Article
MUTILATING CONGENITAL ERYTHROPOEITIC PORPHYRIA WITH BLINDNESS IN A FARMER.
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- 2011
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- Letter
CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS.
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- Indian Journal of Dermatology, 2011, v. 56, n. 1, p. 94, doi. 10.4103/0019-5154.77565
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- Article
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
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- Journal of Applied Laboratory Medicine, 2018, p. 213, doi. 10.1373/jalm.2017.025874
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- Article
Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation.
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- ACG Case Reports Journal, 2024, v. 11, n. 5, p. 1, doi. 10.14309/crj.0000000000001336
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- Article
Biology of Heme in Mammalian Erythroid Cells and Related Disorders.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/278536
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- Article
Congenital erythropoietic porphyria with erythrodontia: A case report.
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- International Journal of Paediatric Dentistry, 2019, v. 29, n. 4, p. 542, doi. 10.1111/ipd.12473
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- Article
Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty.
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- 2012
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- Letter
Congenital erythropoietic porphyria in three siblings.
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- 2007
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- Publication type:
- journal article
Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10089-z
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- Article
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria.
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- Orbit, 2024, v. 43, n. 3, p. 392, doi. 10.1080/01676830.2023.2169718
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- Article
The idiopathic photodermatoses and their management with phototherapies.
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- Dermatological Nursing, 2012, v. 11, n. 3, p. 12
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- Article
L237P Substitution in the UROS Gene Causes X-linked Recessive Congenital Erythropoietic Porphyria in Pakistani Consanguineous Family Through Altered Uroporphyrinogen III Binding.
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- Pakistan Journal of Zoology, 2022, v. 54, n. 4, p. 1849, doi. 10.17582/journal.pjz/20200618170629
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- Article
Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria.
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- British Journal of Haematology, 2021, v. 195, n. 2, p. 153, doi. 10.1111/bjh.17614
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- Article
From chemistry to genomics: A concise history of the porphyrias.
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- Liver International, 2024, v. 44, n. 9, p. 2144, doi. 10.1111/liv.15960
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- Article
Congenital erythropoietic porphyria.
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- Liver International, 2024, v. 44, n. 8, p. 1842, doi. 10.1111/liv.15958
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- Article
Porphyrias and photosensitivity: pathophysiology for the clinician.
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- 2018
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- Publication type:
- journal article
Ocular protection in congenital erythropoietic porphyria: A potential role for gaming glasses.
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- Photodermatology, Photoimmunology & Photomedicine, 2023, v. 39, n. 5, p. 535, doi. 10.1111/phpp.12889
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- Article
Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.
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- Photodermatology, Photoimmunology & Photomedicine, 2022, v. 38, n. 1, p. 86, doi. 10.1111/phpp.12720
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- Article
Abstracts of the 15<sup>th</sup> Annual Photodermatology Day, Amsterdam, 8<sup>th</sup> October 2014 The programme and other abstracts of this event have already been published in the October issue.
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- Photodermatology, Photoimmunology & Photomedicine, 2014, v. 30, n. 6, p. 343, doi. 10.1111/phpp.12154
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- Article
Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.
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- British Journal of Dermatology, 2018, v. 179, n. 2, p. 486, doi. 10.1111/bjd.15927
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- Article
Congenital erythropoietic porphyria: a case in which symptoms were precipitated by an unrelated anaemia.
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- British Journal of Dermatology, 2014, v. 171, n. 2, p. 422, doi. 10.1111/bjd.12945
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- Article
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
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- 2005
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- Publication type:
- journal article
Phototherapy sequela in a child with congenital erythropoietic porphyria.
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- 1999
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- Publication type:
- Case Study
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
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- Science Translational Medicine, 2018, v. 10, n. 459, p. 1, doi. 10.1126/scitranslmed.aat7467
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- Article
Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature.
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- 2015
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- Publication type:
- Case Study
A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.
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- Middle East African Journal of Ophthalmology, 2016, v. 23, n. 1, p. 160, doi. 10.4103/0974-9233.171771
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- Article
Congenital erythropoietic porphyria linked to GATA1- R216 W mutation: challenges for diagnosis.
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- European Journal of Haematology, 2015, v. 94, n. 6, p. 491, doi. 10.1111/ejh.12452
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- Article
Overview of Liver Involvement in Patients With Erythropoietic Protoporphyria.
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- Gastroenterology & Hepatology, 2023, v. 19, n. 2, p. 104
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- Article
Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL.
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- Journal of Patient-Reported Outcomes, 2021, v. 5, n. 1, p. 1, doi. 10.1186/s41687-021-00345-7
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- Article
Afamelanotide in protoporphyria and other skin diseases: a review.
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- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2024, v. 41, n. 2, p. 149, doi. 10.5114/ada.2024.138818
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- Article
Congenital Erythropoietic Porphyria: Mild and Severe Form in Two Brothers.
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- Indian Journal of Paediatric Dermatology, 2024, v. 25, n. 2, p. 121, doi. 10.4103/ijpd.ijpd_12_23
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- Article
Congenital erythropoietic porphyria in an Indian Child.
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- Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 2, p. 141, doi. 10.4103/ijpd.IJPD_67_18
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- Article
Congenital erythropoietic porphyria: Insight into the molecular basis of the disease.
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- Indian Journal of Paediatric Dermatology, 2016, v. 17, n. 1, p. 1, doi. 10.4103/2319-7250.173147
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- Article
Argumentación científica escolar y su contribución al aprendizaje del tema «salud y enfermedad».
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- Revista Eureka sobre Enseñanza y Divulgación de las Ciencias, 2021, v. 18, n. 3, p. 1, doi. 10.25267/Rev_Eureka_ensen_divulg_cienc.2021.v18.i3.3101
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- Article