Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 57 Records) |
| Query Trace: Porphyria[original query] |
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| Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clinical genetics 2009 Apr 75 (4): 346-53. Badenas C, To-Figueras J, Phillips J D, Warby C A, Muñoz C, Herrero |
| [Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain]. Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva 2008 Dec 100 (12): 774-8. Castiella A, Zapata E, de Juan M D, Múgica F, Barrio J, Otazua P, Arriola J A, Cosme A, Elosegui E, Fernández J, Zubiaurre L, Alzate L F, Utrilla E, |
| Significance of H63D homozygosity in a Basque population with hemochromatosis. Journal of gastroenterology and hepatology 2010 Jul 25 (7): 1295-8. Castiella Agustin, Zapata Eva, de Juan Maria Dolores, Otazua Pedro, Fernandez Javier, Zubiaurre Leire, Arriola Jose A, |
| Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda. Experimental dermatology 2010 Aug 19 (8): e326-8. Fontanellas Antonio, Martínez-Fresno María, Garrido-Astray María Concepción, Perucho Teresa, Morán-Jiménez María-Josefa, García-Bravo María, Méndez Manuel, Poblete-Gutiérrez Pamela, Frank Jorge, Henriques-Gil Nuno, de Salamanca Rafael Enríqu |
| Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France. Acta dermato-venereologica 2011 Jan 91 (1): 66-7. Du Thanh Aurélie, Aguilar-Martinez Patricia, Cunat Séverine, Bessis Didier, Guillot Bernard, Dereure Olivi |
| CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Molecular medicine (Cambridge, Mass.) 0 17 (3-4): 241-7. Wickliffe Jeffrey K, Abdel-Rahman Sherif Z, Lee Chul, Kormos-Hallberg Csilla, Sood Gagan, Rondelli Catherine M, Grady James J, Desnick Robert J, Anderson Karl |
| Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda. The British journal of dermatology 2012 Feb 166 (2): 425-9. Tchernitchko D, Robréau A M, Lefebvre T, Lamoril J, Deybach J C, Puy |
| Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. Anais brasileiros de dermatologia 0 88 (4): 530-40. Vieira Fatima Mendonça Jorge, Nakhle Maria Cristina, Abrantes-Lemos Clarice Pires, Cançado Eduardo Luiz Rachid, Reis Vitor Manoel Silva d |
| A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family. JPMA. The Journal of the Pakistan Medical Association 2015 Aug 65 (8): 898-900. Jiao Huang, Xianfeng Zhang, Hui Han, , Yuhong Zhan, Chu Zha |
| Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. Annals of human genetics 2015 May 79 (3): 162-72. Gonzaga Ana Denise Gomes, de Amorim Lidia Maria da Fonte, Fonseca Ana Beatriz Monteiro, Nogueira Tatiana Lucia Santos, Pereira Olga Maria Diniz, Nagai Maria Aparecida, de Oliveira Barretto Orlando Cesar, Ribeiro Georgina Seve |
| The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PloS one 0 11 (9): e0163322. Farrell Colin P, Overbey Jessica R, Naik Hetanshi, Nance Danielle, McLaren Gordon D, McLaren Christine E, Zhou Luming, Desnick Robert J, Parker Charles J, Phillips John |
| Haplotype Study in Argentinean Variegate Porphyria Patients. Human heredity 2016 May 80 (3): 139-143. Granata Bárbara Xoana, Parera Victoria Estela, Batlle Alcira, Rossetti María Victor |
| A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. Journal of the American Society of Nephrology : JASN 2016 Dec . Tchernitchko Dimitri, Tavernier Quentin, Lamoril Jérôme, Schmitt Caroline, Talbi Neila, Lyoumi Said, Robreau Anne-Marie, Karim Zoubida, Gouya Laurent, Thervet Eric, Karras Alexandre, Puy Hervé, Pallet Nicol |
| Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. BioMed research international 2016 12 2016 3927635. Yang Jing, Chen Qianlong, Yang Hang, Hua Baolai, Zhu Tienan, Zhao Yongqiang, Zhu Huadong, Yu Xuezhong, Zhang Li, Zhou Zh |
| A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease. Folia biologica 2015 61 (6): 227-32. Farrag M S, Ku?erová J, Šlachtová L, Šeda O, Šperl J, Martásek |
| SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. Annals of human genetics 2018 May . Succi Isabella Brasil, Pôrto Luís Cristóvão, Silva Dayse, Nascimento Adriana, Neto Ronald Costa, Fonseca João Carl |
| Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. Clinica chimica acta; international journal of clinical chemistry 2018 1 479 1-6. Lin Chia-Ni, Huang Ya-Ching, Ro Long-Sun, Liao Ming-Feng, Ning Hsiao-Chen, Kuo Hung-Ch |
| A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias. Scandinavian journal of clinical and laboratory investigation 2019 6 79 (5): 305-313. Barman-Aksözen Jasmin, Suter Lukas, Wegmann Franziska, Meienberg Janine, Minder Anna Elisabeth, Beer Marc, Komminoth Paul, Minder Elisabeth I, Schneider-Yin Xiao |
| High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet journal of rare diseases 2019 2 14 (1): 59. Barreda-Sánchez María, Buendía-Martínez Juan, Glover-López Guillermo, Carazo-Díaz Carmen, Ballesta-Martínez María Juliana, López-González Vanesa, Sánchez-Soler María José, Rodriguez-Peña Lidya, Serrano-Antón Ana Teresa, Gil-Ferrer Remedios, Martínez-Romero Maria Del Carmen, Carbonell-Meseguer Pablo, Guillén-Navarro Encar |
| Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria. Frontiers in pharmacology 2019 10 10 1018. Fu Yibao, Jia Jinmeng, Yue Lishu, Yang Ruiying, Guo Yongli, Ni Xin, Shi Tiel |
| Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study. Orphanet journal of rare diseases 2020 2 15 (1): 56. Baravelli Carl Michael, Aarsand Aasne Karine, Sandberg Sverre, Tollånes Mette Christophers |
| Role of ABCB1 and glutathione S-transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection. Biomedical reports 2020 12 14 (2): 22. Pagnotta Priscila Ayelén, Melito Viviana Alicia, Lavandera Jimena Verónica, Parera Victoria Estela, Rossetti María Victoria, Zuccoli Johanna Romina, Buzaleh Ana Mar |
| Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran. Journal of inherited metabolic disease 2021 4 44 (4): 961-971. To-Figueras Jordi, Wijngaard Robin, García-Villoria Judit, Aarsand Aasne K, Aguilera Paula, Deulofeu Ramon, Brunet Mercè, Gómez-Gómez Àlex, Pozo Oscar J, Sandberg Sver |
| ABCB6 polymorphisms are not overly represented in patients with porphyria. Blood advances 2021 11 6 (3): 760-766. Farrell Colin P, Nicolas Gäel, Desnick Robert J, Parker Charles J, Lamoril Jerome, Gouya Laurent, Karim Zoubida, Tchernitchko Dimitri, Chan Brenden, Puy Herve, Phillips John |
| Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers. Cells 2021 10 10 (10): . Lin Chia-Ni, Shiao Ming-Shi, Cheng Mei-Ling, Chen Chiung-Mei, Kuo Hung-Ch |
| Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals. Journal of internal medicine 2022 2 291 (6): 824-836. Lissing Mattias, Vassiliou Daphne, Floderus Ylva, Harper Pauline, Bottai Matteo, Kotopouli Marianna, Hagström Hannes, Sardh Eliane, Wahlin Staff |
| Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. Journal of cancer research and clinical oncology 2022 10 . Haverkamp Thomas, Bronisch Olivia, Knösel Thomas, Mogler Carolin, Weichert Wilko, Stauch Thomas, Schmid Claudia, Rummeny Claudia, Beykirch Maria K, Petrides Petro |
| Pathogenesis of acute encephalopathy in acute hepatic porphyria. Journal of neurology 2023 2 . Pischik Elena, Baumann Katrin, Karpenko Alla, Kauppinen Rai |
| Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C. Digestive diseases and sciences 2023 2 1-9. Bonkovsky Herbert L, Rudnick Sean P, Ma Christopher D, Overbey Jessica R, Wang Kelly, Faust Denise, Hallberg Csilla, Hedstrom Karli, Naik Hetanshi, Moghe Akshata, Anderson Karl |
| Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases. Orphanet journal of rare diseases 2024 9 19 (1): 337. Yinan Wang, Nuoya Li, Songyun Zha |
- Page last reviewed:Feb 1, 2024
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