| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| F Weidemann, A Linhart, L Monserrat, J Strotman. Cardiac challenges in patients with Fabry disease. International journal of cardiology. vol 141. issue 1. 2011-01-18. PMID:19720409. |
fabry disease, an x-linked lysosomal storage disorder affecting both men and women, is a relatively prevalent cause of hypertrophic cardiomyopathy (hcm) and is associated with significant morbidity and early death due to heart failure or ventricular arrhythmias. |
2011-01-18 |
2023-08-12 |
Not clear |
| Noureddine Brakch, Olivier Dormond, Soumeya Bekri, Dela Golshayan, Magali Correvon, Lucia Mazzolai, Beat Steinmann, Frédéric Barbe. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. European heart journal. vol 31. issue 1. 2011-01-11. PMID:19773225. |
a hallmark of fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor. |
2011-01-11 |
2023-08-12 |
Not clear |
| Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Jung-Young Park, Woo-Shik Kim, Duk-Hee Kang, Kyung Hoon Choe, Won-Ho Kim, Song Hyun Yang, Han-Wook Yo. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. Journal of human genetics. vol 55. issue 8. 2010-12-07. PMID:20505683. |
among these patients, only one had proteinuria and two had hypertrophic cardiomyopathy without any other systemic manifestation of fabry disease. |
2010-12-07 |
2023-08-12 |
human |
| Federico Pieruzzi, Maurizio Pieroni, Cristina Chimenti, Andrea Frustaci, Cristiano Sarais, Franco Cecch. [Cardiological follow-up in patients with Fabry disease]. Giornale italiano di cardiologia (2006). vol 11. issue 7-8. 2010-11-24. PMID:21033333. |
echocardiographic imaging with tissue doppler analysis and/or strain rate analysis can allow diagnosis of fabry disease even before left ventricular hypertrophy becomes apparent. |
2010-11-24 |
2023-08-12 |
Not clear |
| Federico Pieruzzi, Maurizio Pieroni, Cristina Chimenti, Andrea Frustaci, Cristiano Sarais, Franco Cecch. [Cardiological follow-up in patients with Fabry disease]. Giornale italiano di cardiologia (2006). vol 11. issue 7-8. 2010-11-24. PMID:21033333. |
careful cardiac monitoring is especially important in elderly female carriers, who often develop renal disorders and/or left ventricular hypertrophy as the only manifestations of their late fabry disease. |
2010-11-24 |
2023-08-12 |
Not clear |
| Federico Pieruzzi, Maurizio Pieroni, Cristina Chimenti, Andrea Frustaci, Cristiano Sarais, Franco Cecch. [Cardiological follow-up in patients with Fabry disease]. Giornale italiano di cardiologia (2006). vol 11. issue 7-8. 2010-11-24. PMID:21033333. |
in some clinical series, fabry disease was diagnosed in 12% of women with adult-onset hypertrophic cardiomyopathy. |
2010-11-24 |
2023-08-12 |
Not clear |
| Maja Cikes, George R Sutherland, Lisa J Anderson, Bart H Bijnen. The role of echocardiographic deformation imaging in hypertrophic myopathies. Nature reviews. Cardiology. vol 7. issue 7. 2010-11-22. PMID:20458340. |
physiological hypertrophic remodeling seen in athletes differs from pathological myocardial hypertrophy, which can be caused by compensatory reactive hypertrophy owing to pressure overload in patients with aortic stenosis or hypertension, as well as amyloidosis, fabry disease or friedreich ataxia. |
2010-11-22 |
2023-08-12 |
Not clear |
| Ole Havndrup, Michael Christiansen, Birgitte Stoevring, Morten Jensen, Jakob Hoffman-Bang, Paal Skytt Andersen, Lis Hasholt, Anne Nørremølle, Ulla Feldt-Rasmussen, Lars Køber, Henning Bundgaar. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. European journal of heart failure. vol 12. issue 6. 2010-08-20. PMID:20498269. |
fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. |
2010-08-20 |
2023-08-12 |
Not clear |
| Ole Havndrup, Michael Christiansen, Birgitte Stoevring, Morten Jensen, Jakob Hoffman-Bang, Paal Skytt Andersen, Lis Hasholt, Anne Nørremølle, Ulla Feldt-Rasmussen, Lars Køber, Henning Bundgaar. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. European journal of heart failure. vol 12. issue 6. 2010-08-20. PMID:20498269. |
fabry disease, an x-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase a activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (hcm). |
2010-08-20 |
2023-08-12 |
Not clear |
| G E Linthorst, M G Bouwman, F A Wijburg, J M F G Aerts, B J H M Poorthuis, C E M Holla. Screening for Fabry disease in high-risk populations: a systematic review. Journal of medical genetics. vol 47. issue 4. 2010-07-28. PMID:19797197. |
fabry disease (fd) may present with left ventricular hypertrophy (lvh), renal insufficiency or stroke. |
2010-07-28 |
2023-08-12 |
Not clear |
| He-jun Liu, Ke-jiang Cao, Cheng-rang Li, Jian Dai, Ji-zheng Ma, Yong-hong Yong, Wei Su. [Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy]. Zhonghua xin xue guan bing za zhi. vol 34. issue 2. 2009-07-07. PMID:16626582. |
[alpha-galactosidase a gene mutation in a chinese family with fabry disease mimicking clinical features of hypertrophic cardiomyopathy]. |
2009-07-07 |
2023-08-12 |
Not clear |
| He-jun Liu, Ke-jiang Cao, Cheng-rang Li, Jian Dai, Ji-zheng Ma, Yong-hong Yong, Wei Su. [Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy]. Zhonghua xin xue guan bing za zhi. vol 34. issue 2. 2009-07-07. PMID:16626582. |
to screen gene mutation in alpha-galactosidase a (alpha-gal a) in a nonconsanguineous chinese family with fabry disease (fd) with clinical manifestations similar to hypertrophic cardiomyopathy (hcm). |
2009-07-07 |
2023-08-12 |
Not clear |
| Juha W Koskenvuo, Erik Engblom, Ilkka M Kantola, Jaakko J Hartiala, Antti Saraste, Tuomas O Kiviniemi, Ilkka Mononen, Markku Sarast. Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance. Clinical physiology and functional imaging. vol 29. issue 3. 2009-05-28. PMID:19320660. |
it has been suggested that this sign could be used with good accuracy to differentiate fabry disease from hypertrophic cardiomyopathy and even as a first filter to screen for suspected fabry disease. |
2009-05-28 |
2023-08-12 |
Not clear |
| Frank Weidemann, Markus Niemann, Frank Breunig, Sebastian Herrmann, Meinrad Beer, Stefan Störk, Wolfram Voelker, Georg Ertl, Christoph Wanner, Jörg Strotman. Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. vol 119. issue 4. 2009-03-04. PMID:19153271. |
enzyme replacement therapy with recombinant alpha-galactosidase a reduces left ventricular hypertrophy and improves regional myocardial function in patients with fabry disease during short-term treatment. |
2009-03-04 |
2023-08-12 |
Not clear |
| Michael Teitcher, Sarah Weinerman, Catharina Whybra, Michael Beck, Nir Sharon, Deborah Elstein, Gheona Altaresc. Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease. Genetica. vol 134. issue 3. 2008-11-18. PMID:18278558. |
fabry disease, an x-linked inborn error of metabolism, is characterized by multi-organ involvement including cardiac signs of left ventricular hypertrophy and abnormal intima-medial (imt) thickening of arteries, progressive renal failure, neurological involvement, and more. |
2008-11-18 |
2023-08-12 |
Not clear |
| Andrea K Rutz, Christoph F Juli, Salome Ryf, Urs Widmer, Sebastian Kozerke, Boris P Eckhardt, Peter Boesige. Altered myocardial motion pattern in Fabry patients assessed with CMR-tagging. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance. vol 9. issue 6. 2008-02-25. PMID:18066749. |
progressive left ventricular hypertrophy is the hallmark of cardiac manifestations in patients with fabry disease. |
2008-02-25 |
2023-08-12 |
human |
| Lorenzo Monserrat, Juan Ramón Gimeno-Blanes, Francisco Marín, Manuel Hermida-Prieto, Antonio García-Honrubia, Inmaculada Pérez, Xusto Fernández, Rosario de Nicolas, Gonzalo de la Morena, Eduardo Payá, Jordi Yagüe, Jesús Egid. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. Journal of the American College of Cardiology. vol 50. issue 25. 2008-01-07. PMID:18154965. |
prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. |
2008-01-07 |
2023-08-12 |
Not clear |
| Lorenzo Monserrat, Juan Ramón Gimeno-Blanes, Francisco Marín, Manuel Hermida-Prieto, Antonio García-Honrubia, Inmaculada Pérez, Xusto Fernández, Rosario de Nicolas, Gonzalo de la Morena, Eduardo Payá, Jordi Yagüe, Jesús Egid. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. Journal of the American College of Cardiology. vol 50. issue 25. 2008-01-07. PMID:18154965. |
we aimed to study the prevalence of fabry disease (fd) in patients with hypertrophic cardiomyopathy (hcm). |
2008-01-07 |
2023-08-12 |
Not clear |
| Michael J Ackerman, Andrew P Landstro. Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy. Journal of the American College of Cardiology. vol 50. issue 25. 2008-01-07. PMID:18154966. |
detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy. |
2008-01-07 |
2023-08-12 |
Not clear |
| Norman Sadick, Liza Thoma. Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study. Heart, lung & circulation. vol 16. issue 3. 2007-08-10. PMID:17452128. |
fabry disease should be considered in the differential diagnosis in patients with unexplained lvh and late onset hypertrophic cardiomyopathy. |
2007-08-10 |
2023-08-12 |
human |