Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Hasan Ali Barman, Sevgi Özcan, Adem Atıcı, Caner Özgökçe, Ahmet Öztürk, Ayşegül Ezgi Kafalı, Nafiye Emel Çakar, Mustafa Emir Tavşanlı, Mehmet Küçük, Irfan Şahin, Ertuğrul Okuya. Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey. Anatolian journal of cardiology. vol 23. issue 2. 2020-11-17. PMID:32011328. |
ratio of fabry disease in patients with idiopathic left ventricular hypertrophy: a single-center study in turkey. |
2020-11-17 |
2023-08-13 |
Not clear |
Ayumi Nojiri, Ikuko Anan, Satoshi Morimoto, Makoto Kawai, Toru Sakuma, Masahisa Kobayashi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi, Yoshikatsu Eto, Takahiro Shibata, Michihiro Yoshimura, Kenichi Hong. Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients. Journal of cardiology. vol 75. issue 1. 2020-11-11. PMID:31623930. |
fabry disease is one of the causes of left ventricular hypertrophy (lvh) and can be treated with enzyme replacement therapy or pharmacological chaperone therapy. |
2020-11-11 |
2023-08-13 |
Not clear |
Benjamin Subran, Clémence Montagner, Jonathan London, Olivier Lidove, Wladimir Mauhi. [Fabry disease]. La Revue du praticien. vol 70. issue 5. 2020-10-19. PMID:33058644. |
acroparesthesia, angiokeratoma, familial nephropathy or hypertrophic cardiomyopathy should suggest fabry disease. |
2020-10-19 |
2023-08-13 |
Not clear |
Jia Tang, Chao Wu, Jian Cao, Liang Wan. Fabry disease with early-onset ventricular dilation: A case report. Medicine. vol 99. issue 39. 2020-10-13. PMID:32991443. |
the most common cardiac involvement of fabry disease (fd) is left ventricular hypertrophy (lvh), which usually occurs in male patients over the age of 30. |
2020-10-13 |
2023-08-13 |
Not clear |
Frédéric Barbey, Olivier Dormond, Véronique Monzambani, Guillaume Barbey, Mehdi Namdar, Pierre Monne. [Isolated left ventricular hypertrophy : is it a Fabry disease?] Revue medicale suisse. vol 16. issue 709. 2020-10-13. PMID:33026733. |
[isolated left ventricular hypertrophy : is it a fabry disease?] |
2020-10-13 |
2023-08-13 |
Not clear |
Olga Azevedo, Nuno Marques, Liliana Reis, Inês Cruz, Nuno Craveiro, Hugo Antunes, Carolina Lourenço, Renata Gomes, Rui Azevedo Guerreiro, Ricardo Faria, Fernando Sá, Rui Lima, Paulo Gaspar, Rui Faria, Gabriel Miltenberger-Miltenyi, Nuno Sousa, Damião Cunh. Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy? American heart journal. vol 226. 2020-10-08. PMID:32531501. |
predictors of fabry disease in patients with hypertrophic cardiomyopathy: how to guide the diagnostic strategy? |
2020-10-08 |
2023-08-13 |
Not clear |
Olga Azevedo, Nuno Marques, Liliana Reis, Inês Cruz, Nuno Craveiro, Hugo Antunes, Carolina Lourenço, Renata Gomes, Rui Azevedo Guerreiro, Ricardo Faria, Fernando Sá, Rui Lima, Paulo Gaspar, Rui Faria, Gabriel Miltenberger-Miltenyi, Nuno Sousa, Damião Cunh. Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy? American heart journal. vol 226. 2020-10-08. PMID:32531501. |
fabry disease (fd) is a treatable cause of hypertrophic cardiomyopathy (hcm). |
2020-10-08 |
2023-08-13 |
Not clear |
Sang-Cheol Cho, Han-Wook Yoo, Jae Won Lee, Jeong Yoon Jang, Ran Heo, Jong-Min Son. Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation. Journal of cardiovascular ultrasound. vol 24. issue 4. 2020-10-01. PMID:28090261. |
fabry disease presenting with hypertrophic cardiomyopathy and tricuspid regurgitation. |
2020-10-01 |
2023-08-13 |
Not clear |
Alexandra Ivleva, Ekaterina Weith, Atul Mehta, Derralynn A Hughe. The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients. JIMD reports. vol 41. 2020-09-30. PMID:29380258. |
the symptoms of fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. |
2020-09-30 |
2023-08-13 |
human |
Giuseppe Limongelli, Daniele Masarone, Marina Verrengia, Rita Gravino, Gemma Salerno, Silvia Castelletti, Marta Rubino, Tommaso Marrazzo, Antonio Pisani, Franco Cecchi, Perry Mark Elliott, Giuseppe Pacile. Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. Journal of cardiovascular echography. vol 28. issue 2. 2020-09-30. PMID:29911009. |
diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (phenocopies): amyloidosis, fabry disease, and mitochondrial disease. |
2020-09-30 |
2023-08-13 |
Not clear |
Soonil Kwon, Seung Pyo Lee, Seung Shin Park, Beom Joon Kim, Hyung Kwan Kim, Hyun Jai Cho, Moon Woo Seong, Dae Won Soh. Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic 'Detective' Identifies the 'Rogue' Hidden in the Korean circulation journal. vol 49. issue 5. 2020-09-30. PMID:31074215. |
fabry disease that phenocopies hypertrophic cardiomyopathy: a thorough genetic 'detective' identifies the 'rogue' hidden in the |
2020-09-30 |
2023-08-13 |
Not clear |
Meg M Sleeper, Mark E Haskins, Katherine P Ponde. Gene therapy for cardiovascular manifestations of lysosomal storage diseases. Heart and metabolism : management of the coronary patient. vol 41. 2020-09-29. PMID:26937225. |
mucopolysaccharidosis (mps) causes aortic and valvular disease, pompe disease causes cardiac muscle weakness, and fabry disease causes left ventricular hypertrophy. |
2020-09-29 |
2023-08-13 |
Not clear |
Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidov. Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease. PloS one. vol 15. issue 5. 2020-08-24. PMID:32442237. |
fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy. |
2020-08-24 |
2023-08-13 |
Not clear |
Satoshi Yamashita, Masao Saotome, Hiroshi Satoh, Jun Kajihara, Yusaku Mochizuki, Kimito Mizuno, Mamoru Nobuhara, Keisuke Miyajima, Azumi Kumazawa, Hiromutsu Tominaga, Hiroyuki Takase, Kei Tawarahara, Nobuyuki Wakahara, Masaki Matsunaga, Yasushi Wakabayashi, Yuji Matsumoto, Hajime Terada, Makoto Sano, Hayato Ohtani, Tsuyoshi Urushida, Hideharu Hayashi, Satoshi Ishii, Hiroki Maruyama, Yuichiro Maekaw. Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy. Circulation journal : official journal of the Japanese Circulation Society. vol 83. issue 9. 2020-07-28. PMID:31308318. |
plasma globotriaosylsphingosine level as a primary screening target for fabry disease in patients with left ventricular hypertrophy. |
2020-07-28 |
2023-08-13 |
Not clear |
Satoshi Yamashita, Masao Saotome, Hiroshi Satoh, Jun Kajihara, Yusaku Mochizuki, Kimito Mizuno, Mamoru Nobuhara, Keisuke Miyajima, Azumi Kumazawa, Hiromutsu Tominaga, Hiroyuki Takase, Kei Tawarahara, Nobuyuki Wakahara, Masaki Matsunaga, Yasushi Wakabayashi, Yuji Matsumoto, Hajime Terada, Makoto Sano, Hayato Ohtani, Tsuyoshi Urushida, Hideharu Hayashi, Satoshi Ishii, Hiroki Maruyama, Yuichiro Maekaw. Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy. Circulation journal : official journal of the Japanese Circulation Society. vol 83. issue 9. 2020-07-28. PMID:31308318. |
although previous studies have suggested a certain prevalence of fabry disease (fd) in left ventricular hypertrophy (lvh) patients, the screening of fd is difficult because of its wide-ranging clinical phenotypes. |
2020-07-28 |
2023-08-13 |
Not clear |
Shobhit Mathur, John G Dreisbach, Gauri R Karur, Robert M Iwanochko, Chantal F Morel, Syed Wasim, Elsie T Nguyen, Bernd J Wintersperger, Kate Hannema. Loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in Fabry disease: relationship to T1 mapping, late gadolinium enhancement and hypertrophy. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance. vol 21. issue 1. 2020-05-04. PMID:31366357. |
loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in fabry disease: relationship to t1 mapping, late gadolinium enhancement and hypertrophy. |
2020-05-04 |
2023-08-13 |
Not clear |
Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C Kasper, Pablo Garcia-Pavi. Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker. Orphanet journal of rare diseases. vol 14. issue 1. 2020-04-27. PMID:31286959. |
identification of fabry disease (fd) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. |
2020-04-27 |
2023-08-13 |
Not clear |
Daniela Marisa Carvalho Silva, Nuno Marques, Olga Azevedo, Gabriel Miltenberger-Miltenyi, Dina Bento, João Guedes, Pedro Azevedo, João Bispo, Teresa Mota, Raquel Fernandes, Hipólito Nzwalo, Ana Cabrita, André Ramos, Ilídio de Jesu. p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. Cardiology. vol 144. issue 3-4. 2020-04-24. PMID:31634893. |
the authors report the case of a classic phenotype of fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. |
2020-04-24 |
2023-08-13 |
Not clear |
Daniela Marisa Carvalho Silva, Nuno Marques, Olga Azevedo, Gabriel Miltenberger-Miltenyi, Dina Bento, João Guedes, Pedro Azevedo, João Bispo, Teresa Mota, Raquel Fernandes, Hipólito Nzwalo, Ana Cabrita, André Ramos, Ilídio de Jesu. p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. Cardiology. vol 144. issue 3-4. 2020-04-24. PMID:31634893. |
the clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke. |
2020-04-24 |
2023-08-13 |
Not clear |
Hasan Ali Barman, Barış İkitimur, Burçak Kılıçkıran Avcı, Eser Durmaz, Adem Atıcı, Serkan Aslan, Serdar Ceylaner, Hakan Karpu. The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study Balkan medical journal. vol 36. issue 6. 2020-04-20. PMID:31446751. |
the prevalence of fabry disease among turkish patients with non-obstructive hypertrophic cardiomyopathy: insights from a screening study fabry disease is an x-linked lysosomal storage disorder due to a deficiency of the α-galactosidase a enzyme. |
2020-04-20 |
2023-08-13 |
Not clear |