Works matching Porphyria

Results: 2467

European Porphyria Initiative (EPI): A Platform to Develop a Common Approach to the Management of Porphyrias and to Promote Research in the Field.

Published in:

Physiological Research, 2006, v. 55, p. S67, doi. 10.33549/physiolres.930000.55.s2.67

By:

Deybach, J.-Ch.;
Badminton, M.;
Puy, H.;
Sandberg, S.;
Frank, J.;
Harper, P.;
Martasek, P.;
Minder, E.;
Parker, S.;
Thunell, S.;
Elder, G.

Publication type:

Article

Porfiria cutánea tarda en pacientes tratados con hemodiálisis.

Published in:

Dermatología Revista Mexicana, 2012, v. 56, n. 5, p. 318

By:

Tapia Juárez, Malynahi Libertad;
Hierro Orozco, Sagrario;
Achell Nava, Lucía;
Hernández, Víctor Jaimes

Publication type:

Article

Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867856

By:

Graff, Erica;
Anderson, Karl E.;
Levy, Cynthia

Publication type:

Article

Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.15924

By:

Balwani, Manisha;
Keel, Siobán;
Meissner, Peter;
Sonderup, Mark;
Stein, Penelope;
Yasuda, Makiko

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

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

Published in:

Australasian Journal of Dermatology, 2013, v. 54, n. 2, p. e50, doi. 10.1111/j.1440-0960.2011.00875.x

By:

Rudd, Alice;
Grant, Janine;
Varigos, George;
Morgan, Vanessa;
Winship, Ingrid

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

Update review of the acute porphyrias.

Published in:

British Journal of Haematology, 2017, v. 176, n. 4, p. 527, doi. 10.1111/bjh.14459

By:

Stein, Penelope E.;
Badminton, Michael N.;
Rees, David C.

Publication type:

Article

Hepatocellular Carcinoma in Variegate Porphyria: A Serious Complication.

Published in:

2010

By:

Schneider-Yin, Xiaoye;
Van Tuyll Van Serooskerken, Anne-Moon;
Went, Philip;
Tyblewski, Wojciech;
Poblete-Gutterrez25, Pamela;
Minder, Elisabeth I.;
Frank, Jorge

Publication type:

Case Study

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03284-w

By:

Sardh, Eliane;
Balwani, Manisha;
Rees, David C.;
Anderson, Karl E.;
Jia, Gang;
Sweetser, Marianne T.;
Wang, Bruce

Publication type:

Article

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.

Published in:

2024

By:

Thapar, Manish;
Singh, Akash;
Robinson, Kevin M;
Bonkovsky, Herbert L

Publication type:

Case Study

Acute Hepatic Porphyria – Minireview.

Published in:

Medicina Moderna, 2023, v. 30, n. 1, p. 13, doi. 10.31689/rmm.2023.30.1.13

By:

SAVU, Aida;
EDU, Andrei;
NEGREANU, Lucian

Publication type:

Article

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1889, doi. 10.3390/life13091889

By:

Belosevic, Adrian;
Minder, Anna-Elisabeth;
Gueuning, Morgan;
van Breemen, Franziska;
Thun, Gian Andri;
Mattle-Greminger, Maja P.;
Meyer, Stefan;
Baumer, Alessandra;
Minder, Elisabeth I.;
Schneider-Yin, Xiaoye;
Barman-Aksözen, Jasmin

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 update of clinical management of acute intermittent porphyria.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 201, doi. 10.2147/TACG.S48605

By:

Pischik, Elena;
Kauppinen, Raili

Publication type:

Article

Identification of Mutations in the Uroporphyrinogen III Cosynthase Gene in German Patients with Congenital Erythropoietic Porphyria.

Published in:

Physiological Research, 2006, v. 55, p. S85, doi. 10.33549/physiolres.930000.55.s2.85

By:

Wiederholt, T.;
Poblete-Gutiérrez, P.;
Gardlo, K.;
Goerz, G.;
Bolsen, K.;
Merk, H. F.;
Frank, J.

Publication type:

Article

De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study.

Published in:

Physiological Research, 2006, v. 55, p. S145

By:

Ulbrichova, D.;
Flachsova, E.;
Hrdinka, M.;
Saligova, J.;
Bazar, J.;
Raman, C. S.;
Martasek, Pavel

Publication type:

Article

Demystification of Chester Porphyria: A Nonsense Mutation in the Porphobilinogen Deaminase Gene.

Published in:

Physiological Research, 2006, v. 55, p. S137, doi. 10.33549/physiolres.930000.55.s2.137

By:

Poblete-Gutiérrez, P.;
Wiederholt, T.;
Martinez-Mir, A.;
Merk, H. F.;
Connor, J. M.;
Christiano, A. M.;
Frank, J.

Publication type:

Article

Porphyria in Sweden.

Published in:

Physiological Research, 2006, v. 55, p. S109

By:

Thunell, Stig;
Floderus, Y.;
Henrichson, A.;
Harper, P.

Publication type:

Article

Molecular aspects of the inherited porphyrias.

Published in:

2000

By:

Sassa, S.;
Kappas, A.

Publication type:

journal article

Congenital erythropoietic porphyria in three siblings.

Published in:

2007

By:

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

Publication type:

journal article

Acute intermittent porphyria precipitated by atazanavir/ritonavir.

Published in:

2016

By:

Bharti, Sheena;
Malhotra, Prashant;
Hirsch, Bruce

Publication type:

journal article

The cutaneous porphyrias: a review of diagnosis and management.

Published in:

Journal of the European Academy of Dermatology & Venereology, 1993, v. 2, n. 1, p. 11, doi. 10.1111/j.1468-3083.1993.tb00003.x

By:

Murphy, Gillian M.

Publication type:

Article

A Delayed Diagnosis of Variegate Porphyria, Seen with Verrucous Carcinoma.

Published in:

Turkiye Klinikleri Journal of Internal Medicine / Türkiye Klinikleri İç Hastalıkları Dergisi, 2022, v. 7, n. 2, p. 74, doi. 10.5336/intermed.2022-92361

By:

KAYA, Çağdaş;
HEYDARİ, Ayli;
ALTUN, İlayda;
ÇAVDAROĞLU, Sude;
SEZGİN, Gülbüz

Publication type:

Article

A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.

Published in:

Rambam Maimonides Medical Journal, 2023, v. 14, n. 1, p. 1, doi. 10.5041/RMMJ.10490

By:

Edel, Yonatan;
Mamet, Rivka;
Sagi, Iftach;
Snast, Igor;
Kaftory, Ran;
Mimouni, Tomer;
Levi, Assi

Publication type:

Article

Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity.

Published in:

Acta Dermato-Venereologica, 2001, v. 81, n. 5, p. 356, doi. 10.1080/000155501317140098

By:

Weinlich, Georg;
Doss, Manfred O.;
Sepp, Norbert;
Fritsch, Peter

Publication type:

Article

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis.

Published in:

Neuropsychiatric Disease & Treatment, 2014, v. 10, p. 2135, doi. 10.2147/NDT.S73070

By:

Alfadhel, Majid;
Saleh, Neam;
Alenazi, Helal;
Henry, Baffoe-Bonnie

Publication type:

Article

Long-term Remission of Acute Intermittent Porphyria Treated with Gonadotropin-Releasing Hormone Analogues and Estrogen: a Case Report.

Published in:

Clinical Laboratory, 2022, v. 68, n. 9, p. 1959, doi. 10.7754/Clin.Lab.2022.211218

By:

Juan Xu;
Caihong Yi;
Jiangping He;
Jiao Huang

Publication type:

Article

Brazilian registry of patients with porphyria: REBRAPPO study.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02653-1

By:

Souza, Paulo Victor Sgobbi;
Afonso, Gliciane;
de Rezende Pinto, Wladimir Bocca Vieira;
de Lima Serrano, Paulo;
de Mattos Lombardi Badia, Bruno;
Farias, Igor Braga;
dos Santos Jorge, Ana Carolina;
Machado, Roberta Ismael Lacerda;
Pinto, Icaro França Navarro;
Barros, Glenda Barbosa;
de Oliveira, Helvia Bertoldo;
Calil, Samia Rogatis;
Franz, Cibele;
Oliveira, Acary Souza Bulle

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

Porphyria: a case report.

Published in:

2022

By:

Baidya, Sujata;
Kandel, Pratibha;
Rajkarnikar, Smrity;
Kadel, Anuradha;
Niraula, Apeksha;
Dubey, Raju Kumar;
Lamichhane, Machhindra;
Raut, Mithileshwer;
Bhattarai, Aseem;
Tuladhar, Eans Tara;
Sharma, Vijay Kumar

Publication type:

Case Study

Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-54

By:

Pozo, Oscar J.;
Marcos, Josep;
Fabregat, Andreu;
Ventura, Rosa;
Casals, Gregori;
Aguilera, Paula;
Segura, Jordi;
To-Figueras, Jordi

Publication type:

Article

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-13

By:

Barbaro, Michela;
Kotajärvi, Maire;
Harper, Pauline;
Floderus, Ylva

Publication type:

Article

Variegate porphyria complicated by systemic AA amyloidosis: a case report.

Published in:

Amyloid, 2013, v. 20, n. 4, p. 272, doi. 10.3109/13506129.2013.837390

By:

Tsuchiya, Yoshiki;
Hoshino, Junichi;
Suwabe, Tatsuya;
Sumida, Keiichi;
Hiramatsu, Rikako;
Mise, Koki;
Hasegawa, Eiko;
Yamanouchi, Masayuki;
Hayami, Noriko;
Sawa, Naoki;
Arizono, Kenji;
Hara, Shigeko;
Takaichi, Kenmei;
Fujii, Takeshi;
Ubara, Yoshifumi

Publication type:

Article

Liver transplantation and primary liver cancer in porphyria.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.15894

By:

Lissing, Mattias;
Wang, Bruce;
Wahlin, Staffan

Publication type:

Article

A guide to the diagnosis of porphyria: suggested methods and case examples.

Published in:

New Zealand Journal of Medical Laboratory Science, 2006, v. 60, n. 1, p. 7

By:

Sies, Christiaan;
Florkowski, Christopher

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

Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.

Published in:

Cancers, 2022, v. 14, n. 12, p. 2947, doi. 10.3390/cancers14122947

By:

Ramai, Daryl;
Deliwala, Smit S.;
Chandan, Saurabh;
Lester, Janice;
Singh, Jameel;
Samanta, Jayanta;
di Nunzio, Sara;
Perversi, Fabio;
Cappellini, Francesca;
Shah, Aashni;
Ghidini, Michele;
Sacco, Rodolfo;
Facciorusso, Antonio;
Giacomelli, Luca

Publication type:

Article

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.

Published in:

Journal of Internal Medicine, 2022, v. 291, n. 6, p. 824, doi. 10.1111/joim.13463

By:

Lissing, Mattias;
Vassiliou, Daphne;
Floderus, Ylva;
Harper, Pauline;
Bottai, Matteo;
Kotopouli, Marianna;
Hagström, Hannes;
Sardh, Eliane;
Wahlin, Staffan

Publication type:

Article

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.

Published in:

Journal of Internal Medicine, 2022, v. 291, n. 5, p. 593, doi. 10.1111/joim.13443

By:

Sardh, Eliane;
Harper, Pauline

Publication type:

Article

Acute hepatic porphyria and maternal health: Clinical and biochemical follow‐up of 44 pregnancies.

Published in:

Journal of Internal Medicine, 2022, v. 291, n. 1, p. 81, doi. 10.1111/joim.13376

By:

Vassiliou, Daphne;
Sardh, Eliane

Publication type:

Article

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

Published in:

2017

By:

Baravelli, C. M.;
Sandberg, S.;
Aarsand, A. K.;
Nilsen, R. M.;
Tollånes, M. C.;
Tollånes, M C

Publication type:

journal article

Persistir y no desistir: diagnosticando un caso de porfiria aguda intermitente.

Published in:

Galicia Clínica, 2023, v. 84, n. 2, p. 36, doi. 10.22546/69/2883

By:

Fernández-Castro, Iván;
Barrera-López, Lucía

Publication type:

Article

Diagnosis and management of the erythropoietic porphyrias.

Published in:

Dermatologic Therapy, 2003, v. 16, n. 1, p. 57, doi. 10.1046/j.1529-8019.2003.01609.x

By:

Murphy, Gillian M.

Publication type:

Article

Diagnosis and treatment of the hepatic porphyrias.

Published in:

Dermatologic Therapy, 2003, v. 16, n. 1, p. 65, doi. 10.1046/j.1529-8019.2003.01610.x

By:

Lecha, M.;
Herrero, C.;
Ozalla, D.

Publication type:

Article

Chimeric Mouse With Humanized Liver Is an Appropriate Animal Model to Investigate Mode of Action for Porphyria-Mediated Hepatocytotoxicity.

Published in:

Toxicologic Pathology, 2021, v. 49, n. 7, p. 1243, doi. 10.1177/01926233211027474

By:

Eguchi, Ayumi;
Fukunaga, Satoki;
Ogata, Keiko;
Kushida, Masahiko;
Asano, Hiroyuki;
Cohen, Samuel M.;
Sukata, Tokuo

Publication type:

Article

Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures.

Published in:

Indian Journal of Critical Care Medicine, 2020, v. 24, n. 8, p. 724, doi. 10.5005/jp-journals-10071-23532

By:

Daram, Sarala Kumari;
Arumilli, Murthy N. L. N.;
Reddy, L. Siva Kumar;
Reddy, Duvvuru Nageshwar;
Motor, Revanth

Publication type:

Article

Porphyria cutanea tarda and HIV/AIDS: a review of pathogenesis, clinical manifestations and management.

Published in:

1999

By:

Mansourati, Fadi F.;
Stone, Valerie E.;
Mayer, Kenneth H.;
Mansourati, F F;
Stone, V E;
Mayer, K H

Publication type:

journal article

Acute Intermittent Porphyria in a Burn Patient: Case Study and Review of the Literature.

Published in:

Journal of Burn Care & Research, 2024, v. 45, n. 3, p. 790, doi. 10.1093/jbcr/irad135

By:

Credo, Roald;
Kesey, Jennifer;
Bharadia, Deepak;
Griswold, John;
Pang, Alan

Publication type:

Article