Works matching DE "VARIEGATE porphyria"

Results: 14

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
Sugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria.
Published in:
2018
By:
- Aoki, Yoshitaka;
- Atsumi, Kazuyuki;
- Kora, Makiko;
- Koh, Naoko;
- Yokoyama, Junichiro
Publication type:
Case Study
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
Published in:
British Journal of Dermatology, 2012, v. 166, n. 2, p. 261, doi. 10.1111/j.1365-2133.2011.10606.x
By:
- van Tuyll van Serooskerken, A.M.;
- Drögemöller, B.I.;
- te Velde, K.;
- Bladergroen, R.S.;
- Steijlen, P.M.;
- Poblete-Gutiérrez, P.;
- van Geel, M.;
- van Heerden, C.J.;
- Warnich, L.;
- Frank, J.
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
Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
Published in:
European Journal of Clinical Investigation, 2013, v. 43, n. 7, p. 668, doi. 10.1111/eci.12091
By:
- Ferrer, Miguel D.;
- Tauler, Pedro;
- Sureda, Antoni;
- Palacín, Clara;
- Tur, Josep A.;
- Pons, Antoni
Publication type:
Article
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
Immunomodulatory Effects of Amblyomma variegatum Saliva on Bovine Cells: Characterization of Cellular Responses and Identification of Molecular Determinants.
Published in:
Frontiers in Cellular & Infection Microbiology, 2018, v. 7, p. 1, doi. 10.3389/fcimb.2017.00521
By:
- Rodrigues, Valérie;
- Fernandez, Bernard;
- Vercoutere, Arthur;
- Chamayou, Léo;
- Andersen, Alexandre;
- Vigy, Oana;
- Demettre, Edith;
- Seveno, Martial;
- Aprelon, Rosalie;
- Giraud-Girard, Ken;
- Stachurski, Frédéric;
- Loire, Etienne;
- Vachiéry, Nathalie;
- Holzmuller, Philippe
Publication type:
Article
A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
Published in:
Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01215-8
By:
- Vafaee-Shahi, Mohammad;
- Ghasemi, Saeide;
- Riahi, Aina;
- Sadr, Zahra
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
Homozygous variegate porphyria presenting with developmental and language delay in childhood.
Published in:
Clinical & Experimental Dermatology, 2013, v. 38, n. 7, p. 737, doi. 10.1111/ced.12071
By:
- Pinder, V. A. E.;
- Holden, S. T.;
- Deshpande, C.;
- Siddiqui, A.;
- Mellerio, J. E.;
- Wraige, E.;
- Powell, A. M.
Publication type:
Article
Hepatocellular carcinoma in variegate porphyria: a case report and literature review.
Published in:
Annals of Clinical Biochemistry, 2015, v. 52, n. 3, p. 407, doi. 10.1177/0004563214557568
By:
- Luvai, Ahai;
- Mbagaya, Wycliffe;
- Narayanan, Deepa;
- Degg, Tim;
- Barth, Julian H;
- Toogood, Giles;
- Wyatt, Judith I;
- Swinson, Daniel;
- Hall, Claire J
Publication type:
Article
Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria.
Published in:
Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2249, doi. 10.1038/jid.2011.186
By:
- van Tuyll van Serooskerken, Anne Moniek;
- de Rooij, Felix W;
- Edixhoven, Annie;
- Bladergroen, Reno S;
- Baron, Jens M;
- Joussen, Sylvia;
- Merk, Hans F;
- Steijlen, Peter M;
- Poblete-Gutiérrez, Pamela;
- te Velde, Kornelis;
- Wilson, J H Paul;
- Koole, Rita H;
- van Geel, Michel;
- Frank, Jorge
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
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