Works matching DE "ERYTHROPOIETIC porphyria"

Results: 72

Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Published in:

Life (2075-1729), 2024, v. 14, n. 1, p. 130, doi. 10.3390/life14010130

By:

Goudet, Claire;
Ged, Cécile;
Petit, Audrey;
Desage, Chloe;
Mahe, Perrine;
Salhi, Aicha;
Harzallah, Ines;
Blouin, Jean-Marc;
Mercie, Patrick;
Schmitt, Caroline;
Poli, Antoine;
Gouya, Laurent;
Barlogis, Vincent;
Richard, Emmanuel

Publication type:

Article

Twelve-year follow-up of bone marrow transplantation in congenital erythropoietic porphyria: lessons learned from a challenging case.

Published in:

Clinical & Experimental Dermatology, 2023, v. 48, n. 10, p. 1187, doi. 10.1093/ced/llad219

By:

Díaz-Calvillo, Pablo;
Rodríguez-Pozo, Juan Ángel;
Martínez-López, Antonio;
Aguilera-Peiró, Paula;
Díaz-de-Heredia, Cristina;
Arias-Santiago, Salvador;
Tercedor-Sánchez, Jesus

Publication type:

Article

Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 8, p. 953, doi. 10.1111/ced.12932

By:

Fityan, A.;
Fassihi, H.;
Sarkany, R.

Publication type:

Article

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).

Published in:

2005

By:

Dupuis-Girod, Sophie;
Akkari, Véronique;
Ged, Cécile;
Galambrun, Claire;
Kebaïli, Kamila;
Deybach, Jean-Charles;
Claudy, Alain;
Geburher, Lucette;
Philippe, Noël;
De Verneuil, Hubert;
Bertrand, Yves;
Akkari, Véronique;
Ged, Cécile;
Kebaïli, Kamila;
Philippe, Noël

Publication type:

journal article

An Atypical Case of Congenital Erythropoietic Porphyria.

Published in:

Genes, 2021, v. 12, n. 11, p. 1828, doi. 10.3390/genes12111828

By:

Sudrié-Arnaud, Bénédicte;
Legendre, Marine;
Snanoudj, Sarah;
Pelluard, Fanny;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Article

A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.

Published in:

Middle East African Journal of Ophthalmology, 2016, v. 23, n. 1, p. 160, doi. 10.4103/0974-9233.171771

By:

Debjani, Mishra;
Somnath, Mukhopadhyay

Publication type:

Article

Bullous lesions following phototherapy in a newborn.

Published in:

Einstein (16794508), 2023, v. 21, p. 1, doi. 10.31744/einstein_journal/2023RC0256

By:

Toscano, Marina Moura;
Fernandes Cintra, Flavia;
Oliveira Resende, Ludmila;
Casteleti, Paula;
Arruda Moraes, Lucas Hirano;
da Matta Rivitti-Machado, Maria Cecilia;
Nico, Marcello Menta Simonsen;
Del Bigio, Juliana Zoboli;
de Carvalho, Werther Brunow

Publication type:

Article

Blastic plasmacytoid dendritic cell neoplasm following acquired erythropoietic protoporphyria.

Published in:

Baylor University Medical Center Proceedings, 2017, v. 30, n. 4, p. 450, doi. 10.1080/08998280.2017.11930225

By:

Krause, John R.;
Baugh, Laura;
Swink, Alicia;
Burch, Micah

Publication type:

Article

Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty.

Published in:

2012

By:

Singh, Saurabh;
Khanna, Neena;
Kumar, Lalit

Publication type:

Letter

Congenital erythropoietic porphyria in three siblings.

Published in:

2007

By:

Bari, Arfan U. l.;
Bari, Arfan Ul

Publication type:

journal article

Congenital erythropoietic porphyria five years observation with standard treatment: a case report.

Published in:

Oxford Medical Case Reports, 2024, v. 2024, n. 1, p. 1, doi. 10.1093/omcr/omad151

By:

Kamalyan, Marine;
Mohammadi, Mohammadmahdi

Publication type:

Article

Biology of Heme in Mammalian Erythroid Cells and Related Disorders.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/278536

By:

Tohru Fujiwara;
Hideo Harigae

Publication type:

Article

Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10089-z

By:

Hagiwara, Satoru;
Nishida, Naoshi;
Ida, Hiroshi;
Ueshima, Kazuomi;
Minami, Yasunori;
Takita, Masahiro;
Aoki, Tomoko;
Morita, Masahiro;
Chishina, Hirokazu;
Komeda, Yoriaki;
Yoshida, Akihiro;
Park, Ah-Mee;
Sato, Masako;
Kawada, Akira;
Nakano, Hajime;
Nakagawa, Hiroshi;
Kudo, Masatoshi

Publication type:

Article

Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria.

Published in:

Orbit, 2024, v. 43, n. 3, p. 392, doi. 10.1080/01676830.2023.2169718

By:

Mickevicius, Tomas;
Holtmann, Christoph;
Draganov, Jutta;
Prues-Hoelscher, Jennifer;
Geerling, Gerd;
Borrelli, Maria

Publication type:

Article

Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature.

Published in:

2015

By:

Agarwal, Shweta;
Majumder, Parthopratim Dutta;
Srinivasan, Bhaskar;
Iyer, Geetha

Publication type:

Case Study

Needle‐like red cell inclusions in congenital erythropoietic porphyria.

Published in:

British Journal of Haematology, 2025, v. 206, n. 1, p. 15, doi. 10.1111/bjh.19875

By:

Mendoza, Ana;
Crespo, María Gema;
Morado, Marta

Publication type:

Article

Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria.

Published in:

British Journal of Haematology, 2021, v. 195, n. 2, p. 153, doi. 10.1111/bjh.17614

By:

Saultier, Paul;
Loosveld, Marie;
Arnoux, Isabelle;
Tosello, Barthélémy;
Quessada, Julie;
Barlogis, Vincent

Publication type:

Article

Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL.

Published in:

Journal of Patient-Reported Outcomes, 2021, v. 5, n. 1, p. 1, doi. 10.1186/s41687-021-00345-7

By:

Biolcatti, G.;
Hanneken, S.;
Minder, E. I.;
Neumann, N. J.;
Wilson, J. H. P.;
Wolgen, P. J.;
Wright, D. J.;
Lloyd, A. J.

Publication type:

Article

Ocular protection in congenital erythropoietic porphyria: A potential role for gaming glasses.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2023, v. 39, n. 5, p. 535, doi. 10.1111/phpp.12889

By:

Fityan, A.;
Aneju, G. A.;
Morley, A. M. S.;
Sarkany, R.

Publication type:

Article

Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2022, v. 38, n. 1, p. 86, doi. 10.1111/phpp.12720

By:

Serra‐García, Laura;
Morgado‐Carrasco, Daniel;
Pérez‐Valencia, Amanda Isabel;
Castaño‐Díez, Sandra;
Alamon‐Reig, Francesc;
Badenas, Cèlia;
To‐Figueras, Jordi;
Aguilera, Paula

Publication type:

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.

Published in:: Photodermatology, Photoimmunology & Photomedicine, 2014, v. 30, n. 6, p. 343, doi. 10.1111/phpp.12154
Publication type:: Article

Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation.

Published in:

ACG Case Reports Journal, 2024, v. 11, n. 5, p. 1, doi. 10.14309/crj.0000000000001336

By:

Gopalakrishna, Harish;
Mironova, Maria;
Malik, Shahid;
Faust, Alison;
Khurram, Nigar;
Koh, Christopher;
Kleiner, David E.;
Heller, Theo

Publication type:

Article

Childhood porphyria causing lifelong multilating photosensitivity.

Published in:

2020

By:

Ramesh, A.;
Shabari, A.

Publication type:

Case Study

The vampire in medical perspective: myth or malady?

Published in:

QJM: An International Journal of Medicine, 2014, v. 107, n. 11, p. 945, doi. 10.1093/qjmed/hcu159

By:

Maas, R.P.P.W.M.;
Voets, P.J.G.M.

Publication type:

Article

Porphyrias: Uncommon disorders masquerading as common childhood diseases.

Published in:

Journal of Postgraduate Medicine, 2023, v. 69, n. 3, p. 164, doi. 10.4103/jpgm.jpgm_698_22

By:

Chakraborty A.;
Muranjan M.;
Karande S.;
Kharkar V.

Publication type:

Article

Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.

Published in:

Journal of Applied Laboratory Medicine, 2018, p. 213, doi. 10.1373/jalm.2017.025874

By:

Gou, Eric;
Weng, Cindy;
Greene, Tom;
Anderson, Karl E.;
Phillips, John D.

Publication type:

Article

Porphyria.

Published in:

Southern African Journal of Anaesthesia & Analgesia, 2023, p. S54, doi. 10.36303/SAJAA.3068

By:

Khumalo, M.

Publication type:

Article

Afamelanotide in protoporphyria and other skin diseases: a review.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2024, v. 41, n. 2, p. 149, doi. 10.5114/ada.2024.138818

By:

Polańska, Adriana;
Wegner, Joanna;
Nutbohm, Paula;
Staubach, Petra;
Żaba, Ryszard;
Dańczak-Pazdrowska, Aleksandra;
Jenerowicz, Dorota

Publication type:

Article

'... they had interpreted "disability" as referring to a patently visible disability': experience of a patient group with NICE.

Published in:

Disability & Society, 2022, v. 37, n. 7, p. 1239, doi. 10.1080/09687599.2022.2060804

By:

Barman-Aksözen, Jasmin;
Granata, Francesca;
Aksözen, Mehmet Hakan;
Dechant, Cornelia;
Falchetto, Rocco

Publication type:

Article

Porphyrins and the porphyrias.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.16061

By:

Fontanellas, Antonio;
Avila, Matías A.;
Deybach, Jean‐Charles;
Badminton, Michael N.

Publication type:

Article

From chemistry to genomics: A concise history of the porphyrias.

Published in:

Liver International, 2024, v. 44, n. 9, p. 2144, doi. 10.1111/liv.15960

By:

Badminton, Michael N.;
Anderson, Karl E.;
Deybach, Jean‐Charles;
Harper, Pauline;
Sandberg, Sverre;
Elder, George H.

Publication type:

Article

Congenital erythropoietic porphyria.

Published in:

Liver International, 2024, v. 44, n. 8, p. 1842, doi. 10.1111/liv.15958

By:

To‐Figueras, Jordi;
Erwin, Angelika L.;
Aguilera, Paula;
Millet, Oscar;
Desnick, Robert J.

Publication type:

Article

Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88668-9

By:

Bragazzi Cunha, Juliana;
Elenbaas, Jared S.;
Maitra, Dhiman;
Kuo, Ning;
Azuero-Dajud, Rodrigo;
Ferguson, Allison C.;
Griffin, Megan S.;
Lentz, Stephen I.;
Shavit, Jordan A.;
Omary, M. Bishr

Publication type:

Article

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 1, p. 27, doi. 10.3390/biom14010027

By:

Yasuda, Makiko;
Lee, Sangmi;
Gan, Lin;
Bergonia, Hector A.;
Desnick, Robert J.;
Phillips, John D.

Publication type:

Article

The idiopathic photodermatoses and their management with phototherapies.

Published in:

Dermatological Nursing, 2012, v. 11, n. 3, p. 12

By:

Garibaldinos, Trish;
Walker, Susan

Publication type:

Article

Causal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.

Published in:

PLoS ONE, 2024, v. 19, n. 3, p. 1, doi. 10.1371/journal.pone.0299536

By:

Yang, Xiaoyu;
Wang, Shuomin;
Sun, Chen;
Xia, Yunhong

Publication type:

Article

L237P Substitution in the UROS Gene Causes X-linked Recessive Congenital Erythropoietic Porphyria in Pakistani Consanguineous Family Through Altered Uroporphyrinogen III Binding.

Published in:

Pakistan Journal of Zoology, 2022, v. 54, n. 4, p. 1849, doi. 10.17582/journal.pjz/20200618170629

By:

Mukhtar, Roshana;
Shahzad, Shaheen;
Rashid, Sajid;
Rozi, Maryam;
Rasheed, Madiha;
Afzal, Imran;
Shaiq, Pakeeza Arzoo

Publication type:

Article

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01544-2

By:

Tumminelli, Cristina;
Burlo, Francesca;
Pastore, Serena;
Severini, Giovanni Maria;
Berti, Irene;
Marchini, Stefano;
Zanon, Davide;
De Martino, Eleonora;
Tommasini, Alberto

Publication type:

Article

Cardiopulmonary bypass in a child with erythropoietic protoporphyria.

Published in:

Australasian Journal of Dermatology, 2022, v. 63, n. 1, p. e60, doi. 10.1111/ajd.13751

By:

Pathman, Lydia;
Bennett, Martin;
d'Udekem, Yves;
Phillips, Roderic

Publication type:

Article

Phototherapy sequela in a child with congenital erythropoietic porphyria.

Published in:

1999

By:

Soylu, A.;
Kavukcu, S.;
Türkmen, M.;
Kavukçu, S;
Türkmen, M

Publication type:

Case Study

Afamelanotide: A Review in Erythropoietic Protoporphyria.

Published in:

American Journal of Clinical Dermatology, 2016, v. 17, n. 2, p. 179, doi. 10.1007/s40257-016-0184-6

By:

Kim, Esther;
Garnock-Jones, Karly

Publication type:

Article

A case of congenital erythropoietic porphyria.

Published in:

Journal of Pakistan Association of Dermatologists, 2017, v. 27, n. 4, p. 387

By:

Rai, Tulika;
Shukla, Prakriti

Publication type:

Article

Congenital erythropoietic porphyria - A case report.

Published in:

2017

By:

Gupta, Mrinal

Publication type:

Case Study

Argumentación científica escolar y su contribución al aprendizaje del tema «salud y enfermedad».

Published in:

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

By:

Revel Chion, Andrea;
Díaz Guevara, Carlos A.;
Adúriz-Bravo, Agustín

Publication type:

Article

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1486595

By:

Jia, Ning;
Yimin, Yusupu;
Li, Ming;
Jiang, Long;
Liu, Yeqiang

Publication type:

Article

Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.

Published in:

Science Translational Medicine, 2018, v. 10, n. 459, p. 1, doi. 10.1126/scitranslmed.aat7467

By:

Urquiza, Pedro;
Laín, Ana;
Sanz-Parra, Arantza;
Moreno, Jorge;
Bernardo-Seisdedos, Ganeko;
Dubus, Pierre;
González, Esperanza;
Gutiérrez-de-Juan, Virginia;
García, Sandra;
Eraña, Hasier;
San Juan, Itxaso;
Macías, Iratxe;
Ben Bdira, Fredj;
Pluta, Paula;
Ortega, Gabriel;
Oyarzábal, Julen;
González-Muñiz, Rosario;
Rodríguez-Cuesta, Juan;
Anguita, Juan;
Díez, Emilio

Publication type:

Article

Congenital erythropoietic porphyria linked to GATA1- R216 W mutation: challenges for diagnosis.

Published in:

European Journal of Haematology, 2015, v. 94, n. 6, p. 491, doi. 10.1111/ejh.12452

By:

Di Pierro, Elena;
Russo, Roberta;
Karakas, Zeynep;
Brancaleoni, Valentina;
Gambale, Antonella;
Kurt, Ismail;
Winter, S. Stuart;
Granata, Francesca;
Czuchlewski, David Rodriguez;
Langella, Concetta;
Iolascon, Achille;
Cappellini, Maria Domenica

Publication type:

Article

Recurrent blistering in an infant!

Published in:: Journal of Paediatrics & Child Health, 2023, v. 59, n. 4, p. 702, doi. 10.1111/jpc.1_16044
Publication type:: Article

Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.

Published in:

2024

By:

Tumminelli, Cristina;
Burlo, Francesca;
Pastore, Serena;
Severini, Giovanni Maria;
Berti, Irene;
Marchini, Stefano;
Zanon, Davide;
De Martino, Eleonora;
Tommasini, Alberto

Publication type:

Correction Notice

Scleritis in congenital erythropoietic porphyria - infective or inflammatory?

Published in:

2018

By:

Sahay, Pranita;
Dhanda, Suman;
Singhal, Deepali;
Maharana, Prafulla K.;
Titiyal, Jeewan S.;
Sharma, Namrata

Publication type:

journal article