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