Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 112 Records) |
Query Trace: Fabry Disease[original query] |
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Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis. Clinics (Sao Paulo, Brazil) 2020 9 75 e1811. Hasbal Nuri Baris, Caglayan Feyza Bayrakdar, Sakaci Tamer, Ahbap Elbis, Koc Yener, Sevinc Mustafa, Ucar Zuhal Atan, Unsal Abdulkadir, Basturk Tan |
Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy. PloS one 2020 9 15 (9): e0239675. Sadasivan Chandu, Chow Josie T Y, Sheng Bun, Chan David K H, Fan Yiting, Choi Paul C L, Wong Jeffrey K T, Tong Mabel M B, Chan Tsz-Ngai, Fung Erik, Kam Kevin K H, Chan Joseph Y S, Chi Wai-Kin, Paterson D Ian, Senaratne Manohara, Brass Neil, Oudit Gavin Y, Lee Alex P |
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question! Orphanet journal of rare diseases 2020 8 15 (1): 216. Rota Eugenia, Grandis Marina, Di Sapio Alessia, Ghiglione Elisabetta, Fiorentino Pietro, Repetto Alessandra, Giliberto Claudia, Gemelli Chiara, Morelli Nicola, Schenone Angelo, Cocito Dar |
GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease. Annals of translational medicine 2020 8 8 (14): 865. Dong Zhe-Yi, Wang Qian, Lin Shu-Peng, Chen Pu, Liu Jiao-Na, Liu Shu-Wen, Cai Guang-Yan, Chen Xiang-Mei, Hong Qu |
Pathologic substrate of gastropathy in Anderson-Fabry disease. Orphanet journal of rare diseases 2020 6 15 (1): 156. Di Toro Alessandro, Narula Nupoor, Giuliani Lorenzo, Concardi Monica, Smirnova Alexandra, Favalli Valentina, Urtis Mario, Alvisi Costanza, Antoniazzi Elena, Arbustini Eloi |
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. Journal of clinical medicine 2021 8 10 (16): . Reková Petra, Dostálová Gabriela, Kemlink David, Paulasová Schwabová Jaroslava, Dubská Zora, Vaneckova Manuela, Mašek Martin, Kodet Ond?ej, Poup?tová Helena, Mazurová Stella, Rajdova Aneta, Vlckova Eva, Tábo?íková Alena, Fafejtová Št?pánka, Nevsimalova Miroslava, Linhart Aleš, Tomek Al |
Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy. The American journal of the medical sciences 2021 7 362 (3): 260-267. Xiao Yan, Sun Yang, Tian Tao, Wang Tian-Jie, Zhao Ran-Xu, Zhang Ying, Wang Lin-Ping, Liu Ya-Xin, Lu Chao-Xia, Zhou Xian-Liang, Yang Wei-Xi |
High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME). Journal of clinical medicine 2021 May 10 (10): . Fan Yiting, Chan Tsz-Ngai, Chow Josie T Y, Kam Kevin K H, Chi Wai-Kin, Chan Joseph Y S, Fung Erik, Tong Mabel M P, Wong Jeffery K T, Choi Paul C L, Chan David K H, Sheng Bun, Lee Alex Pui-W |
Frequency of Fabry disease in a juvenile idiopathic arthritis cohort. Pediatric rheumatology online journal 2021 6 19 (1): 91. Paim-Marques Luciana, Cavalcante Amanda Virginia, Verçosa Islane, Carneiro Paula, Souto-Maior Marcia, Marques Erlane, Appenzeller Simo |
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. JIMD reports 2021 May 59 (1): 60-68. Limgala Renuka Pudi, Furtak Vyacheslav, Ivanova Margarita M, Changsila Erk, Wilks Floyd, Fidelia-Lambert Marie N, Goker-Alpan Ozlem, Gondré-Lewis Marjorie |
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease. High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension 2021 4 28 (3): 309-319. Rossi Federica, Svarstad Einar, Elsaid Hassan, Binaggia Agnese, Roggero Letizia, Auricchio Sara, Marti Hans-Peter, Pieruzzi Federi |
Mutation analysis of the GLA gene in Chinese patients with intracerebral hemorrhage. Neurobiology of aging 2021 Feb . Tang Lu, Yang Qiong, Liu Xiaolu, Tian Danyang, Wu Chenying, Han Qi, Yan Xin, Ding Shengchao, Fan Dongshe |
Nationwide screening for Fabry disease in unselected stroke patients. PloS one 2021 12 16 (12): e0260601. Tomek Aleš, Petra Reková, Paulasová Schwabová Jaroslava, Olšerová Anna, Škor?a Miroslav, Nevšímalová Miroslava, Šim?nek Libor, Herzig Roman, Fafejtová Št?pánka, Mikulenka Petr, Tábo?íková Alena, Neumann Ji?í, Brzezny Richard, Sobolová Helena, Bartoník Jan, Václavík Daniel, Vachová Marta, Bechyn? Karel, Havlíková Hana, Prax Tomáš, Ša?ák Daniel, ?erníková Irena, Onde?ková Iva, Procházka Petr, Rajner Jan, Škoda Miroslav, Novák Jan, Škoda Ond?ej, Bar Michal, Mikulík Robert, Dostálová Gabriela, Linhart Aleš, |
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC heart failure 2022 9 9 (6): 4160-4166. Zemánek David, Januška Jaroslav, Hon?k Tomáš, ?urila Karol, Kubánek Miloš, Šindelá?ová Št?pánka, Zahálková Lucie, Klofá? Petr, Lašt?vková Eliška, Lichnerová Eva, Aiglová Renata, Lhotský Jan, Vondrák Ji?í, Dostálová Gabriela, Táborský Miloš, Kasper David, Linhart Al |
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. Journal of clinical medicine 2022 3 11 (5): . Mauhin Wladimir, Tebani Abdellah, Amelin Damien, Abily-Donval Lenaig, Lamari Foudil, London Jonathan, Douillard Claire, Dussol Bertrand, Leguy-Seguin Vanessa, Noel Esther, Masseau Agathe, Lacombe Didier, Maillard Hélène, Bekri Soumeya, Lidove Olivier, Benveniste Olivi |
Prevalence of Fabry Disease among Patients with Parkinson's Disease. Parkinson's disease 2022 2022 1014950. Lackova Alexandra, Beetz Christian, Oppermann Sebastian, Bauer Peter, Pavelekova Petra, Lorincova Tatiana, Ostrozovicova Miriam, Kulcsarova Kristina, Cobejova Jana, Cobej Martin, Levicka Petra, Liesenerova Simona, Sendekova Daniela, Sukovska Viktoria, Gdovinova Zuzana, Han Vladimir, Rizig Mie, Houlden Henry, Skorvanek Mat |
Evaluation of demographic, clinical, and aetiological data of patients admitted to cardiology clinics and diagnosed with left ventricular hypertrophy in Turkish population (LVH-TR). Acta cardiologica 2022 10 77 (9): 836-845. Kis Mehmet, Dogan Yasemin, Yildirim Abdullah, Güzel Tuncay, Bekar Lutfu, Akhan Onur, Dogdus Mustafa, Harbal?o?lu Hazar, Karabulut Dilay, Soydan Elton, Zoghi Mehdi, Ergene Oktay, |
Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG advances 2023 8 4 (4): 100226. Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Go |
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
Population Frequency of Undiagnosed Fabry Disease in the General Population. Kidney international reports 2023 7 8 (7): 1373-1379. Amalia Kermond-Marino, Annie Weng, Selina Kai Xi Zhang, Zac Tran, Mary Huang, Judy Savi |
Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients. Orphanet journal of rare diseases 2023 7 18 (1): 186. Yan Lok Tiffany Lam, Bun Sheng, Hoi Ming Kwok, Ellen Lok Man Yu, Ka Fai Johnny |
Brain MRI correlations with disease burden and biomarkers in Fabry disease. Journal of neurology 2023 6 . Yawen Zhao, Ying Zhu, Fan Li, Yunchuang Sun, Wei Ma, Yuan Wu, Wei Zhang, Zhaoxia Wang, Yun Yuan, Yining Hua |
Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak. The Journal of nutrition 2023 5 . Ifechukwude Ebenuwa, Pierre-Christian Violet, Sebastian J Padayatty, Yaohui Wang, Hongbin Tu, Kenneth J Wilkins, David F Moore, Peter Eck, Raphael Schiffmann, Mark Levi |
Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families. Metabolic brain disease 2023 4 . Vittoria Cianci, Angelo Pascarella, Lucia Manzo, Sara Gasparini, Oreste Marsico, Anna Mammì, Carmelo Massimiliano Rao, Claudio Franzutti, Umberto Aguglia, Edoardo Ferlaz |
Speckle tracking echocardiography-derived parameters as new prognostic markers in hypertrophic cardiomyopathies. European heart journal open 2023 3 3 (2): oead014. Faro Denise Cristiana, Losi Valentina, Rodolico Margherita Stefania, Licciardi Salvatore, Monte Ines Pao |
Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The international journal of cardiovascular imaging 2023 3 . Güzel Tuncay, Ça?lar Fatma Nihan Turhan, Ekici Berkay, K?? Mehmet, Özta? Selvi, Öz Ahmet, Gök Gülay, Kolak Zeynep, Ak?it Ercan, Sar?ca Süleyman An?l, Bayrak Murat, Birdal O?uzhan, U?uz Berat, Gitmez Mesut, Berk Gül ?layda, O?uz Mustafa, Çal?k Ali Nazmi, K?l?ç Salih, Zoghi Mehdi, Ergene As?m Okt |
Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2023 2 . Paz Osvaldo Theodoro da, Lacerda Rosiane Cássia Teixeira, de Andrade Luis Gustavo Model |
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants. Genes 2023 11 14 (11): . Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov, Elena Trufanova, Alina Alexeeva, Dmitry Sladkov, Ludmila Kuzenkova, Aliy Asanov, Andrey Fisen |
FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data. Journal of rare diseases (Berlin, Germany) 2024 1 3 (1): 2. Caryn J Lobel, Dawn A Laney, Jingjing Yang, David Jacob, Amy Rickheim, Carol Z Ogg, Diana Clynes, Jessica Dron |
Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea. Kidney research and clinical practice 2024 1 . Eunjung Cho, Jung Tak Park, Tae-Hyun Yoo, Soo Wan Kim, Cheol Whee Park, Seung Seok Han, Yeong Hoon Kim, Young Joo Kw |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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