Works matching Porphyria

Results: 2490

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

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

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

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

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

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

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

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

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

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

A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.

Published in:

British Journal of Dermatology, 2006, v. 154, n. 2, p. 368, doi. 10.1111/j.1365-2133.2005.06978.x

By:

Poblete-Gutiérrez, P.;
Wolff, C.;
Farias, R.;
Frank, J.

Publication type:

Article

The cutaneous porphyrias: a review.

Published in:

British Journal of Dermatology, 1999, v. 140, n. 4, p. 573, doi. 10.1046/j.1365-2133.1999.02754.x

By:

MURPHY;
M.Murphy, Gillian

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

A Case of Congenital Erythropoietic Porphyria without Hemolysis.

Published in:

Indian Journal of Dermatology, 2013, v. 58, n. 5, p. 441, doi. 10.4103/0019-5154.117336

By:

De, Arun K.;
Das, Kallol;
Sil, Archan;
Joardar, Swarnali

Publication type:

Article

CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS.

Published in:

Indian Journal of Dermatology, 2011, v. 56, n. 1, p. 94, doi. 10.4103/0019-5154.77565

By:

Koley, Sankha;
Saoji, Vikrant

Publication type:

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

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.

Published in:

2019

By:

Lederhandler, M.;
Chen, L.;
Meehan, S. A.;
Brinster, N. K.;
Neimann, A.

Publication type:

Case Study

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

Dual porphyrias revisited.

Published in:

Experimental Dermatology, 2006, v. 15, n. 9, p. 685, doi. 10.1111/j.1600-0625.2006.00464.x

By:

Poblete-Gutiérrez, Pamela;
Badeloe, Sadhanna;
Wiederholt, Tonio;
Merk, Hans F.;
Frank, Jorge

Publication type:

Article

The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.

Published in:

Experimental Dermatology, 2004, v. 13, n. 6, p. 372, doi. 10.1111/j.0906-6705.2004.00163.x

By:

Poblete-Gutiérrez, Pamela;
Mendez, Manuel;
Wiederholt, Tonio;
Merk, Hans F.;
Fontanellas, Antonio;
Wolft, Carlos;
Frank, Jorge

Publication type:

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

Congenital erythropoietic porphyria: anesthetic implications.

Published in:

Journal of Anesthesia, 2009, v. 23, n. 4, p. 569, doi. 10.1007/s00540-009-0784-x

By:

KUMAR, MRITUNJAY;
BOSE, SOMNATH;
DARLONG, VANLAL;
PUNJ, JYOTSNA

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

Congenital erythropoietic porphyria in an Indian Child.

Published in:

Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 2, p. 141, doi. 10.4103/ijpd.IJPD_67_18

By:

Singal, Archana;
Kayarkatte, M;
Pandhi, Deepika

Publication type:

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

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

Use of sugammadex in acute intermittent porphyria.

Published in:

Revista Mexicana de Anestesiología, 2021, v. 44, n. 3, p. 229, doi. 10.35366/99671

By:

Tinoco, Joana;
Eloy, André;
Regufe, Rita;
Rosinha, Daniela;
Taleco, Tiago;
Silva-Duarte, João

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

Rare mutation of the PPOX gene in a patient with Porphyria Variegate: a case report in Peru.

Published in:

2023

By:

Kamimoto-Rodriguez, Augusto;
Caira-Chuquineyra, Brenda;
Fernandez-Guzman, Daniel

Publication type:

Case Study

Acute intermittent porphyria precipitated by atazanavir/ritonavir.

Published in:

2016

By:

Bharti, Sheena;
Malhotra, Prashant;
Hirsch, Bruce

Publication type:

journal article

Intermittent hepatic porphyria in pregnancy with good perinatal outcome.

Published in:

Medicinski Glasnik, 2012, v. 9, n. 1, p. 120

By:

Vidosavljević, Domagoj;
Šijanović, Siniša;
Rubin, Mirjana;
Petrović, Maja Košuta;
Žuljević, Kristina Abičić;
Šimić, Ivana

Publication type:

Article

Primary Liver Cancer, Other Malignancies, and Mortality Risks following Porphyria: A Cohort Study in Denmark and Sweden.

Published in:

American Journal of Epidemiology, 2009, v. 149, n. 11, p. 1010

By:

Linet, Martha S.;
Gridley, Gloria;
Nyrén, Olof;
Mellemkjaer, Lene;
Olsen, Jorgen H.;
Keehn, Shannon;
Adami, HansOlov;
Fraumeni, Joseph F.

Publication type:

Article

Oxcarbazepine in Focal Epilepsy and Hepatic Porphyria: A Case Report.

Published in:

Epilepsia (Series 4), 2001, v. 42, n. 6, p. 793, doi. 10.1046/j.1528-1157.2001.44200.x

By:

Gaida-Hommernick, Bernadette;
Rieck, Karina;
Runge, Uwe

Publication type:

Article

Congenital erythropoietic porphyria in three siblings.

Published in:

2007

By:

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

Publication type:

journal article

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

Givosiran for the treatment of acute hepatic porphyria.

Published in:

Expert Review of Clinical Pharmacology, 2022, v. 15, n. 4, p. 383, doi. 10.1080/17512433.2022.2075848

By:

Ricci, Andrea;
Ventura, Paolo

Publication type:

Article

Erythrodontia in congenital erythropoietic porphyria.

Published in:

2011

By:

Bhavasar, Rashmi;
Santoshkumar, G.;
Prakash, B. Rahul

Publication type:

Case Study

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

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

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02913-0

By:

Horie, Yutaka;
Yasuoka, Yuka;
Adachi, Tomohide

Publication type:

Article

Porphyrias and photosensitivity: pathophysiology for the clinician.

Published in:

2018

By:

Kakoullis, Loukas;
Louppides, Stylianos;
Papachristodoulou, Eleni;
Panos, George

Publication type:

journal 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

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

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

Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.

Published in:

FEBS Journal, 2009, v. 276, n. 7, p. 2106, doi. 10.1111/j.1742-4658.2009.06946.x

By:

Ulbrichova, Dana;
Hrdinka, Matous;
Saudek, Vladimir;
Martasek, Pavel

Publication type:

Article

Systemic lupus erythematosus and hydroxychloroquine-related acute intermittent porphyria.

Published in:

Rheumatology International, 2020, v. 40, n. 5, p. 777, doi. 10.1007/s00296-019-04500-8

By:

Esteve-Valverde, Enrique;
Tapiz-Reula, Alfonso;
Ruiz, Domingo;
Alijotas-Reig, Jaume

Publication type:

Article