| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Toshiyuki Yano, Hiroto Oshima, Takayuki Miki, Marenao Tanaka, Atsuko Muranaka, Arata Osanami, Fumihiko Takahashi, Tetsuji Miur. Late gadolinium enhancement image masquerading as hypertrophic cardiomyopathy in Fabry disease receiving enzyme replacement therapy. International journal of cardiology. vol 203. 2016-09-26. PMID:26512827. |
late gadolinium enhancement image masquerading as hypertrophic cardiomyopathy in fabry disease receiving enzyme replacement therapy. |
2016-09-26 |
2023-08-13 |
Not clear |
| Elisabete Martins, Teresa Pinho, Stirling Carpenter, Sérgio Leite, Raquel Garcia, António Madureira, João Paulo Oliveir. Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology. vol 33. issue 9. 2016-08-12. PMID:25246064. |
the most frequent cardiac presentation of fabry disease is cardiomyopathy characterized by left ventricular (lv) hypertrophy, usually concentric. |
2016-08-12 |
2023-08-13 |
Not clear |
| John Garcia, Jackie Tahiliani, Nicole Marie Johnson, Sienna Aguilar, Daniel Beltran, Amy Daly, Emily Decker, Eden Haverfield, Blanca Herrera, Laura Murillo, Keith Nykamp, Scott Toppe. Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity. Frontiers in cardiovascular medicine. vol 3. 2016-07-22. PMID:27446933. |
here, we applied these approaches to the evaluation of more than 100 genes reported to be associated with inherited cardiomyopathies and arrhythmias including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia or cardiomyopathy, long qt syndrome, short qt syndrome, brugada, and catecholaminergic polymorphic ventricular tachycardia, and to a set of related syndromes such as noonan syndrome and fabry disease. |
2016-07-22 |
2023-08-13 |
Not clear |
| Carmela Zizzo, Ines Monte, Antonio Pisani, Pasquale Fatuzzo, Eleonora Riccio, Margherita Stefania Rodolico, Paolo Colomba, Maurizio Uva, Giuseppe Cammarata, Riccardo Alessandro, Francesco Iemolo, Giovanni Dur. Molecular and clinical studies in five index cases with novel mutations in the GLA gene. Gene. vol 578. issue 1. 2016-05-27. PMID:26691501. |
the studied patients presented some clinical manifestations, such as cornea verticillata, hypo-anhidrosis, left ventricular hypertrophy, cerebrovascular disorders and renal failure, that, considering the null enzymatic activity, suggest that the new mutations reported here are related to the classic form of fabry disease. |
2016-05-27 |
2023-08-13 |
human |
| Jukka T Saarinen, Niko Sillanpää, Ilkka Kantol. A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 22. issue 2. 2016-04-18. PMID:25439755. |
we report a 38-year-old man with acute aphasia and a left m2 segment of the middle cerebral artery thrombus with no recanalization who was finally diagnosed with fabry disease after left ventricular hypertrophy of undetermined cause had been identified. |
2016-04-18 |
2023-08-13 |
Not clear |
| Rebecca Kozor, Fraser Callaghan, Michel Tchan, Christian Hamilton-Craig, Gemma A Figtree, Stuart M Griev. A disproportionate contribution of papillary muscles and trabeculations to total left ventricular mass makes choice of cardiovascular magnetic resonance analysis technique critical in Fabry disease. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance. vol 17. 2016-04-11. PMID:25890002. |
sphingolipid deposition in fabry disease causes left ventricular (lv) hypertrophy, of which the accurate assessment is essential. |
2016-04-11 |
2023-08-13 |
Not clear |
| Ana Baptista, Pedro Magalhães, Sílvia Leão, Sofia Carvalho, Pedro Mateus, Ilídio Moreir. Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation. Arquivos brasileiros de cardiologia. vol 105. issue 2. 2016-03-28. PMID:26269958. |
screening for fabry disease in left ventricular hypertrophy: documentation of a novel mutation. |
2016-03-28 |
2023-08-13 |
Not clear |
| Jin-Song Shen, Xing-Li Meng, Mary Wight-Carter, Taniqua S Day, Sean C Goetsch, Sabrina Forni, Jay W Schneider, Zhi-Ping Liu, Raphael Schiffman. Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice. Human molecular genetics. vol 24. issue 11. 2016-02-16. PMID:25701874. |
we subsequently also found that blockade of ar signaling either through castration or ar-antagonist prevented and reversed cardiac and kidney hypertrophic phenotype in a mouse model of fabry disease. |
2016-02-16 |
2023-08-13 |
mouse |
| Tomás F Cianciulli, María C Saccheri, Segundo P Fernández, Cinthia C Fernández, Paula A Rozenfeld, Isaac Kisinovsk. Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. Echocardiography (Mount Kisco, N.Y.). vol 32. issue 5. 2016-01-20. PMID:25684266. |
apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. |
2016-01-20 |
2023-08-13 |
Not clear |
| Tomás F Cianciulli, María C Saccheri, Segundo P Fernández, Cinthia C Fernández, Paula A Rozenfeld, Isaac Kisinovsk. Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. Echocardiography (Mount Kisco, N.Y.). vol 32. issue 5. 2016-01-20. PMID:25684266. |
although concentric left ventricular hypertrophy is a major cardiac finding in fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. |
2016-01-20 |
2023-08-13 |
Not clear |
| Tomás F Cianciulli, María C Saccheri, Segundo P Fernández, Cinthia C Fernández, Paula A Rozenfeld, Isaac Kisinovsk. Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. Echocardiography (Mount Kisco, N.Y.). vol 32. issue 5. 2016-01-20. PMID:25684266. |
we describe a 59-year-old-woman suffering from a severe form of fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. |
2016-01-20 |
2023-08-13 |
Not clear |
| Tomás F Cianciulli, María C Saccheri, Segundo P Fernández, Cinthia C Fernández, Paula A Rozenfeld, Isaac Kisinovsk. Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. Echocardiography (Mount Kisco, N.Y.). vol 32. issue 5. 2016-01-20. PMID:25684266. |
differentiation of fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. |
2016-01-20 |
2023-08-13 |
Not clear |
| Tomás F Cianciulli, María C Saccheri, Segundo P Fernández, Cinthia C Fernández, Paula A Rozenfeld, Isaac Kisinovsk. Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. Echocardiography (Mount Kisco, N.Y.). vol 32. issue 5. 2016-01-20. PMID:25684266. |
fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. |
2016-01-20 |
2023-08-13 |
Not clear |
| Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilco. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of medical genetics. vol 52. issue 5. 2016-01-06. PMID:25795794. |
fabry disease results from deficient α-galactosidase a activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. |
2016-01-06 |
2023-08-13 |
Not clear |
| Gianluca Di Bella, Fausto Pizzino, Fabio Minutoli, Concetta Zito, Rocco Donato, Giuseppe Dattilo, Giuseppe Oreto, Sergio Baldari, Giuseppe Vita, Bijoy K Khandheria, Scipione Carer. The mosaic of the cardiac amyloidosis diagnosis: role of imaging in subtypes and stages of the disease. European heart journal. Cardiovascular Imaging. vol 15. issue 12. 2015-09-10. PMID:25190073. |
hypertrophic cardiomyopathy, 'athlete's heart,' fabry disease, and hypertensive cardiomyopathy), and misdiagnosis occurs frequently. |
2015-09-10 |
2023-08-13 |
Not clear |
| B E Smid, L van der Tol, F Cecchi, P M Elliott, D A Hughes, G E Linthorst, J Timmermans, F Weidemann, M L West, M Biegstraaten, R H Lekanne Deprez, S Florquin, P G Postema, B Tomberli, A C van der Wal, M A van den Bergh Weerman, C E Holla. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. International journal of cardiology. vol 177. issue 2. 2015-08-17. PMID:25442977. |
uncertain diagnosis of fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. |
2015-08-17 |
2023-08-13 |
human |
| B E Smid, L van der Tol, F Cecchi, P M Elliott, D A Hughes, G E Linthorst, J Timmermans, F Weidemann, M L West, M Biegstraaten, R H Lekanne Deprez, S Florquin, P G Postema, B Tomberli, A C van der Wal, M A van den Bergh Weerman, C E Holla. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. International journal of cardiology. vol 177. issue 2. 2015-08-17. PMID:25442977. |
screening in subjects with left ventricular hypertrophy (lvh) reveals a high prevalence of fabry disease (fd). |
2015-08-17 |
2023-08-13 |
human |
| Francisca Caetano, Ana Botelho, Paula Mota, Joana Silva, António Leitão Marque. Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology. vol 33. issue 3. 2015-07-07. PMID:24661928. |
fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation r118c. |
2015-07-07 |
2023-08-12 |
Not clear |
| Silvia Pica, Daniel M Sado, Viviana Maestrini, Marianna Fontana, Steven K White, Thomas Treibel, Gabriella Captur, Sarah Anderson, Stefan K Piechnik, Matthew D Robson, Robin H Lachmann, Elaine Murphy, Atul Mehta, Derralyn Hughes, Peter Kellman, Perry M Elliott, Anna S Herrey, James C Moo. Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance. vol 16. 2015-03-30. PMID:25475749. |
cardiovascular magnetic resonance (cmr) derived native myocardial t1 is decreased in patients with fabry disease even before left ventricular hypertrophy (lvh) occurs and may be the first non-invasive measure of myocyte sphingolipid storage. |
2015-03-30 |
2023-08-13 |
Not clear |
| Tomas Palecek, Jitka Honzikova, Helena Poupetova, Hana Vlaskova, Petr Kuchynka, Lubor Golan, Sudheera Magage, Ales Linhar. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). Journal of inherited metabolic disease. vol 37. issue 3. 2015-02-20. PMID:24173410. |
prevalence of fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective fabry cardiomyopathy screening study (facss). |
2015-02-20 |
2023-08-12 |
Not clear |