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Items: 1 to 20 of 80

1.
A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications
Yonatan Edel, Rivka Mamet, Iftach Sagy, Igor Snast, Ran Kaftory, Tomer Mimouni, Assi Levi
Rambam Maimonides Med J. 2023 Jan; 14(1): e0003. Published online 2023 Jan 29. doi: 10.5041/RMMJ.10490
PMCID:
PMC9888486
ArticlePDF–383K
2.
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy
Edwige Collaud, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine
Front Genet. 2022; 13: 993453. Published online 2022 Oct 31. doi: 10.3389/fgene.2022.993453
PMCID:
PMC9662787
ArticlePDF–801K
3.
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
Mohammad Vafaee-Shahi, Saeide Ghasemi, Aina Riahi, Zahra Sadr
Ital J Pediatr. 2022; 48: 27. Published online 2022 Feb 14. doi: 10.1186/s13052-022-01215-8
PMCID:
PMC8842551
ArticlePDF–786K
4.
mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks
Daniel Jericó, Karol M. Córdoba, Lei Jiang, Caroline Schmitt, María Morán, Ana Sampedro, Manuel Alegre, María Collantes, Eva Santamaría, Estíbaliz Alegre, Corinne Culerier, Ander Estella-Hermoso de Mendoza, Julen Oyarzabal, Miguel A. Martín, Iván Peñuelas, Matías A. Ávila, Laurent Gouya, Paolo G.V. Martini, Antonio Fontanellas
Mol Ther Nucleic Acids. 2021 Sep 3; 25: 207–219. Published online 2021 May 19. doi: 10.1016/j.omtn.2021.05.010
PMCID:
PMC8368795
ArticlePDF–1.0M
5.
Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias
Ran Kaftory, Yonatan Edel, Igor Snast, Moshe Lapidoth, Rivka Mamet, Avishay Elis, Emmilia Hodak, Assi Levi
Mol Genet Metab Rep. 2021 Mar; 26: 100707. Published online 2021 Jan 13. doi: 10.1016/j.ymgmr.2021.100707
PMCID:
PMC7811049
ArticlePDF–833K
6.
Variegate Porphyria Triggered by Acute Hepatitis A Infection
Daniel Micallef, Charlton Agius, Charles Mallia-Azzopardi, Gerald Buhagiar, Lawrence Scerri
Eur J Case Rep Intern Med. 2020; 7(12): 001688. Published online 2020 Sep 22. doi: 10.12890/2020_001688
PMCID:
PMC7727627
ArticlePDF–775K
7.
Sugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria
Yoshitaka Aoki, Kazuyuki Atsumi, Makiko Kora, Naoko Koh, Junichiro Yokoyama
JA Clin Rep. 2018 Dec; 4: 49. Published online 2018 Jun 18. doi: 10.1186/s40981-018-0187-9
PMCID:
PMC6967284
ArticlePDF–408K
8.
Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report
Faiza Rasheed, Qasim S Mehdi, Shoaib Bhatti, Muhammad Mannan Ali Khan
Cureus. 2018 Sep; 10(9): e3351. Published online 2018 Sep 24. doi: 10.7759/cureus.3351
PMCID:
PMC6255715
ArticlePDF–1.5M
9.
Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals
Jessica K. Leet, Rachel A. Hipszer, David C. Volz
Toxicol Rep. 2015; 2: 976–983. Published online 2015 Jul 13. doi: 10.1016/j.toxrep.2015.07.006
PMCID:
PMC5598413
ArticlePDF–2.0M
10.
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient
Shinji Susa, Fumiko Sato-Monma, Kouta Ishii, Yurika Hada, Kaoru Takase, Kyoko Tada, Kiriko Wada, Wataru Kameda, Kentaro Watanabe, Toshihide Oizumi, Tamio Suzuki, Makoto Daimon, Takeo Kato
Intern Med. 2016 Oct 15; 55(20): 2965–2969. doi: 10.2169/internalmedicine.55.7108
PMCID:
PMC5109563
ArticlePDF–643K
11.
Characterization of Variegate Porphyria Mutations Using a Minigene Approach
Barbara Xoana Granata, Marco Baralle, Laura De Conti, Victoria Parera, Maria Victoria Rossetti
JIMD Rep. 2015; 20: 39–44. Published online 2015 Feb 1. doi: 10.1007/8904_2014_388
PMCID:
PMC4375119
ArticlePDF–200K
12.
Variegate porphyria complicated by systemic AA amyloidosis: a case report
Yoshiki Tsuchiya, Junichi Hoshino, Tatsuya Suwabe, Keiichi Sumida, Rikako Hiramatsu, Koki Mise, Eiko Hasegawa, Masayuki Yamanouchi, Noriko Hayami, Naoki Sawa, Kenji Arizono, Shigeko Hara, Kenmei Takaichi, Takeshi Fujii, Yoshifumi Ubara
Amyloid. 2013 Dec; 20(4): 272–274. Published online 2013 Oct 16. doi: 10.3109/13506129.2013.837390
PMCID:
PMC3836393
ArticlePDF–4.4M
13.
Quantitative Structural Insight into Human Variegate Porphyria Disease
Baifan Wang, Xin Wen, Xiaohong Qin, Zhifang Wang, Ying Tan, Yuequan Shen, Zhen Xi
J Biol Chem. 2013 Apr 26; 288(17): 11731–11740. Published online 2013 Mar 6. doi: 10.1074/jbc.M113.459768
PMCID:
PMC3636862
ArticlePDF–2.5M
14.
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Michela Barbaro, Maire Kotajärvi, Pauline Harper, Ylva Floderus
Orphanet J Rare Dis. 2013; 8: 13. Published online 2013 Jan 16. doi: 10.1186/1750-1172-8-13
PMCID:
PMC3554555
ArticlePDF–897K
15.
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients
Manuel Méndez, Barbara X. Granata, María J. Morán Jiménez, Victoria E. Parera, Alcira Batlle, Rafael Enríquez de Salamanca, María V. Rossetti
JIMD Rep. 2012; 4: 91–97. Published online 2011 Dec 6. doi: 10.1007/8904_2011_77
PMCID:
PMC3509896
ArticlePDF–268K
16.
A Case of Variegate Porphyria in Association With Coeliac Disease and Bisphosphonate Associated Dental Osteonecrosis
Olayinka A. Ogundipe
J Clin Med Res. 2009 Dec; 1(5): 292–296. Published online 2009 Dec 28. doi: 10.4021/jocmr2009.11.1270
PMCID:
PMC3311446
ArticlePDF–239K
17.
Genetic and biochemical studies in Argentinean patients with variegate porphyria
María V Rossetti, Bárbara X Granata, Jimena Giudice, Victoria E Parera, Alcira Batlle
BMC Med Genet. 2008; 9: 54. Published online 2008 Jun 20. doi: 10.1186/1471-2350-9-54
PMCID:
PMC2467414
ArticlePDF–1.0M
18.
Homozygous variegate porphyria: an evolving clinical syndrome.
R. J. Hift, P. N. Meissner, G. Todd, P. Kirby, D. Bilsland, P. Collins, J. Ferguson, M. R. Moore
Postgrad Med J. 1993 Oct; 69(816): 781–786. doi: 10.1136/pgmj.69.816.781
Correction in:
Postgrad Med J. 1994 Nov; 70(829): 855.
PMCID:
PMC2399984
SummaryPage BrowsePDF–1.5M
19.
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
M. von und zu Fraunberg, R. Tenhunen, R. Kauppinen
Mol Med. 2001 May; 7(5): 320–328.
PMCID:
PMC1950037
SummaryPDF–175K
20.
The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis.
O C Stine, K D Smith
Am J Hum Genet. 1990 Mar; 46(3): 452–458.
PMCID:
PMC1683615
SummaryPage BrowsePDF–1.0M

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