| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Maxim Avanesov, Anahid Asgari, Nicole Muschol, Anja Friederike Köhn, Enver Tahir, Gerhard Adam, Paulus Kirchhof, Gunnar Lund, Ersin Cavus, Monica Patte. Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain. Scientific reports. vol 13. issue 1. 2023-04-10. PMID:37037838. |
cardiac manifestation of classical fabry disease (cfd) varies with sex and presence of left ventricular hypertrophy. |
2023-04-10 |
2023-08-14 |
Not clear |
| Ebru Özpelit, Yüksel Çavuşoğlu, Hikmet Yorgun, Emir Özgür Barış Ökçün, Rabia Eker Akıllı, Ahmet Çelik, Necip Ermiş, Demet Menekşe Gerede Uludağ, Gokhan Kahveci, Şefika Uslu Çil, Erkan Erfidan, Omaç Tufekciogl. The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey. Anatolian journal of cardiology. vol 27. issue 4. 2023-03-30. PMID:36995061. |
the frequency of fabry disease in patients with cardiac hypertrophy of various phenotypes including prominent papillary muscle: the tucarfab study in turkey. |
2023-03-30 |
2023-08-14 |
Not clear |
| Ebru Özpelit, Yüksel Çavuşoğlu, Hikmet Yorgun, Emir Özgür Barış Ökçün, Rabia Eker Akıllı, Ahmet Çelik, Necip Ermiş, Demet Menekşe Gerede Uludağ, Gokhan Kahveci, Şefika Uslu Çil, Erkan Erfidan, Omaç Tufekciogl. The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey. Anatolian journal of cardiology. vol 27. issue 4. 2023-03-30. PMID:36995061. |
the present study aimed to identify the frequency of fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. |
2023-03-30 |
2023-08-14 |
Not clear |
| Jiali Fan, Changsheng Ma, Heng Wang, Bingyuan Zho. The value of myocardial work in patients with left ventricular hypertrophy. The international journal of cardiovascular imaging. 2023-03-16. PMID:36922462. |
left ventricular hypertrophy (lvh) is commonly detected in fabry disease (fd), cardiac amyloidosis (ca) and hypertension (htn). |
2023-03-16 |
2023-08-14 |
Not clear |
| Tuncay Güzel, Fatma Nihan Turhan Çağlar, Berkay Ekici, Mehmet Kış, Selvi Öztaş, Ahmet Öz, Gülay Gök, Zeynep Kolak, Ercan Akşit, Süleyman Anıl Sarıca, Murat Bayrak, Oğuzhan Birdal, Berat Uğuz, Mesut Gitmez, Gül İlayda Berk, Mustafa Oğuz, Ali Nazmi Çalık, Salih Kılıç, Mehdi Zoghi, Asım Oktay Ergen. Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The international journal of cardiovascular imaging. 2023-03-15. PMID:36920623. |
prevalence of fabry disease in patients with left ventricular hypertrophy in turkey: multicenter study (lvh-tr subgroup analysis). |
2023-03-15 |
2023-08-14 |
Not clear |
| Tuncay Güzel, Fatma Nihan Turhan Çağlar, Berkay Ekici, Mehmet Kış, Selvi Öztaş, Ahmet Öz, Gülay Gök, Zeynep Kolak, Ercan Akşit, Süleyman Anıl Sarıca, Murat Bayrak, Oğuzhan Birdal, Berat Uğuz, Mesut Gitmez, Gül İlayda Berk, Mustafa Oğuz, Ali Nazmi Çalık, Salih Kılıç, Mehdi Zoghi, Asım Oktay Ergen. Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The international journal of cardiovascular imaging. 2023-03-15. PMID:36920623. |
in this prospective study we aimed to determine the rate of fabry disease (fd) in patients with left ventricular hypertrophy (lvh), and to evaluate the clinical presentations of patients with fd in a comprehensive manner. |
2023-03-15 |
2023-08-14 |
Not clear |
| Jong Bin Choi, Dong-Won Seol, Hyo-Sang Do, Hee-Young Yang, Taek-Min Kim, Youkyeong Gloria Byun, Jae-Min Park, Jinhyuk Choi, Seon Pyo Hong, Won-Suk Chung, Jae Myoung Suh, Gou Young Koh, Beom Hee Lee, Gabbine Wee, Yong-Mahn Ha. Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease. Molecular therapy : the journal of the American Society of Gene Therapy. 2023-02-09. PMID:36755495. |
fabry disease (fd), a lysosomal storage disorder, is caused by defective α-galactosidase (gla) activity, which results in the accumulation of globotriaosylceramide (gb3) in endothelial cells and leads to life-threatening complications such as left ventricular hypertrophy (lvh), renal failure, and stroke. |
2023-02-09 |
2023-08-14 |
mouse |
| Samuela Carigi, Luisa De Gennaro, Piero Gentile, Renata De Maria, Giovanna Di Giannuario, Georgette Khoury, Vincenzo Polizzi, Mauro Gori, Francesco Orso, Maria Denitza Tinti, Giuseppe Leonardi, Antonello D'Andrea, Francesca Mantovani, Valeria Pergola, Granit Rabia, Alessia Gimelli, Massimiliano Rizzo, Marco Campana, Marco Marini, Fabrizio Oliva, Furio Colivicch. [Ten questions on cardiac magnetic resonance in patients with heart failure: from etiological diagnosis to prognostic stratification]. Giornale italiano di cardiologia (2006). vol 23. issue 12. 2022-12-12. PMID:36504209. |
in patients with heart failure with preserved ejection fraction, cmr offers the possibility of diagnosing specific phenotypes, including sarcomeric hypertrophic cardiomyopathy, amyloidosis or fabry disease, and adds prognostic information. |
2022-12-12 |
2023-08-14 |
Not clear |
| Yoo Jin Hong, Young Jin Ki. [The Role of Cardiac MRI in the Diagnosis of Fabry Disease]. Taehan Yongsang Uihakhoe chi. vol 81. issue 2. 2022-10-14. PMID:36237382. |
fabry disease is a rare x-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase a. cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. |
2022-10-14 |
2023-08-14 |
Not clear |
| David Zemánek, Jaroslav Januška, Tomáš Honěk, Karol Čurila, Miloš Kubánek, Štěpánka Šindelářová, Lucie Zahálková, Petr Klofáč, Eliška Laštůvková, Eva Lichnerová, Renata Aiglová, Jan Lhotský, Jiří Vondrák, Gabriela Dostálová, Miloš Táborský, David Kasper, Aleš Linhar. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC heart failure. 2022-09-10. PMID:36087038. |
nationwide screening of fabry disease in patients with hypertrophic cardiomyopathy in czech republic. |
2022-09-10 |
2023-08-14 |
Not clear |
| Yiting Lu, Peng Fan, Xianliang Zho. IDENTIFICATION OF A GROSS DELETION MUTATION OF GLA GENE IN A FABRY DISEASE FAMILY CHARACTERIZED BY ATRIAL FIBRILLATION AND MYOCARDIAL HYPERTROPHY. Journal of hypertension. vol 40. issue Suppl 1. 2022-08-26. PMID:36027211. |
identification of a gross deletion mutation of gla gene in a fabry disease family characterized by atrial fibrillation and myocardial hypertrophy. |
2022-08-26 |
2023-08-14 |
Not clear |
| Yiting Lu, Peng Fan, Xianliang Zho. IDENTIFICATION OF A GROSS DELETION MUTATION OF GLA GENE IN A FABRY DISEASE FAMILY CHARACTERIZED BY ATRIAL FIBRILLATION AND MYOCARDIAL HYPERTROPHY. Journal of hypertension. vol 40. issue Suppl 1. 2022-08-26. PMID:36027211. |
herein, we reported a chinese family with fabry disease predominantly characterized by atrial fibrillation and myocardial hypertrophy. |
2022-08-26 |
2023-08-14 |
Not clear |
| Francesca Graziani, Rosa Lillo, Elena Biagini, Giuseppe Limongelli, Camillo Autore, Maurizio Pieroni, Chiara Lanzillo, Leonardo Calò, Maria Beatrice Musumeci, Gessica Ingrasciotta, Matteo Minnucci, Raffaello Ditaranto, Alessandra Milazzo, Chiara Zocchi, Marta Rubino, Gaetano Antonio Lanza, Iacopo Olivotto, Filippo Cre. Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease. International journal of cardiology. 2022-08-05. PMID:35931207. |
myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs fabry disease. |
2022-08-05 |
2023-08-14 |
Not clear |
| Francesca Graziani, Rosa Lillo, Elena Biagini, Giuseppe Limongelli, Camillo Autore, Maurizio Pieroni, Chiara Lanzillo, Leonardo Calò, Maria Beatrice Musumeci, Gessica Ingrasciotta, Matteo Minnucci, Raffaello Ditaranto, Alessandra Milazzo, Chiara Zocchi, Marta Rubino, Gaetano Antonio Lanza, Iacopo Olivotto, Filippo Cre. Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease. International journal of cardiology. 2022-08-05. PMID:35931207. |
little is known about prevalence and predictors of myocardial infarction with non-obstructive coronary arteries (minoca) in fabry disease (fd) and hypertrophic cardiomyopathy (hcm). |
2022-08-05 |
2023-08-14 |
Not clear |
| Edgar Antezana-Chavez, Tomás Francisco Cianciulli, Claudio León Hadid, Dario Di Toro, Leonardo Celano, María Cristina Saccheri, Karina Giselle Baez, Carlos Alfredo Lopez, Carlos David Labadet, Juan Alberto Gagliard. Value of Electrocardiography to Distinguish Fabry Disease from Sarcomeric Hypertrophic Cardiomyopathy. The American journal of cardiology. 2022-07-09. PMID:35810008. |
value of electrocardiography to distinguish fabry disease from sarcomeric hypertrophic cardiomyopathy. |
2022-07-09 |
2023-08-14 |
Not clear |
| Edgar Antezana-Chavez, Tomás Francisco Cianciulli, Claudio León Hadid, Dario Di Toro, Leonardo Celano, María Cristina Saccheri, Karina Giselle Baez, Carlos Alfredo Lopez, Carlos David Labadet, Juan Alberto Gagliard. Value of Electrocardiography to Distinguish Fabry Disease from Sarcomeric Hypertrophic Cardiomyopathy. The American journal of cardiology. 2022-07-09. PMID:35810008. |
fabry disease (fd) is a rare genetic disorder that leads to left ventricular hypertrophy (lvh), frequently misdiagnosed as hypertrophic cardiomyopathy (hcm). |
2022-07-09 |
2023-08-14 |
Not clear |
| John Tremblay, Samuel Kim, Edward Philbin, Kelly Beers, Andrea Lightle, Dmitri Belo. Late-onset Fabry disease: the cardiac sequela. BMJ case reports. vol 15. issue 6. 2022-06-09. PMID:35680278. |
we describe a patient with fabry disease (fd) who initially presented with atrial fibrillation without left ventricular hypertrophy (lvh) 14 years before being correctly diagnosed with fd. |
2022-06-09 |
2023-08-14 |
Not clear |
| Toru Kubo, Masashi Amano, Seiji Takashio, Takahiro Okumura, Saori Yamamoto, Takeru Nabeta, Masayoshi Oikawa, Satoshi Kurisu, Yuri Ochi, Kenta Sugiura, Yuichi Baba, Hajime Kuroiwa, Takayoshi Hirota, Naohito Yamasaki, Shunsuke Ishii, Kotaro Nochioka, Yasuchika Takeishi, Satoshi Yasuda, Kenichi Tsujita, Chisato Izumi, Hiroaki Kitaok. A retrospective investigation to establish new screening approach for the detection of patients at high risk of Fabry disease in male left ventricular hypertrophy patients. Journal of cardiology. 2022-06-01. PMID:35643740. |
a retrospective investigation to establish new screening approach for the detection of patients at high risk of fabry disease in male left ventricular hypertrophy patients. |
2022-06-01 |
2023-08-13 |
Not clear |
| Toru Kubo, Masashi Amano, Seiji Takashio, Takahiro Okumura, Saori Yamamoto, Takeru Nabeta, Masayoshi Oikawa, Satoshi Kurisu, Yuri Ochi, Kenta Sugiura, Yuichi Baba, Hajime Kuroiwa, Takayoshi Hirota, Naohito Yamasaki, Shunsuke Ishii, Kotaro Nochioka, Yasuchika Takeishi, Satoshi Yasuda, Kenichi Tsujita, Chisato Izumi, Hiroaki Kitaok. A retrospective investigation to establish new screening approach for the detection of patients at high risk of Fabry disease in male left ventricular hypertrophy patients. Journal of cardiology. 2022-06-01. PMID:35643740. |
the prevalence of fabry disease (fd) in male patients with left ventricular hypertrophy (lvh) is about 1%. |
2022-06-01 |
2023-08-13 |
Not clear |
| K Savostyanov, A Pushkov, I Zhanin, N Mazanova, S Trufanov, A Pakhomov, A Alexeeva, D Sladkov, A Asanov, A Fisenk. The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology. Orphanet journal of rare diseases. vol 17. issue 1. 2022-05-16. PMID:35578305. |
the prevalence of fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a russian nationwide screening program using ngs technology. |
2022-05-16 |
2023-08-13 |
Not clear |