| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aris Anastasakis, Efstathios Papatheodorou, Alexandros Klavdios Sterioti. Fabry disease and cardiovascular involvement. Current pharmaceutical design. vol 19. issue 33. 2014-04-01. PMID:23448453. |
fabry disease should be included in the differential diagnosis algorithm of idiopathic hypertrophy. |
2014-04-01 |
2023-08-12 |
Not clear |
| Richard B Thompson, Kelvin Chow, Aneal Khan, Alicia Chan, Miriam Shanks, Ian Paterson, Gavin Y Oudi. T₁ mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. Circulation. Cardiovascular imaging. vol 6. issue 5. 2013-11-14. PMID:23922004. |
t₁ mapping with cardiovascular mri is highly sensitive for fabry disease independent of hypertrophy and sex. |
2013-11-14 |
2023-08-12 |
Not clear |
| Zaheer Yousef, Perry M Elliott, Franco Cecchi, Brigitte Escoubet, Ales Linhart, Lorenzo Monserrat, Mehdi Namdar, Frank Weideman. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. European heart journal. vol 34. issue 11. 2013-09-05. PMID:22736678. |
left ventricular hypertrophy in fabry disease: a practical approach to diagnosis. |
2013-09-05 |
2023-08-12 |
Not clear |
| Dániel Czuriga, Walter J Paulus, István Czuriga, István Édes, Zoltán Papp, Attila Borbél. Cellular mechanisms for diastolic dysfunction in the human heart. Current pharmaceutical biotechnology. vol 13. issue 13. 2013-06-28. PMID:22280428. |
diastolic abnormalities have been described in the senescent heart, in heart failure with preserved ejection fraction (hfpef), in diabetic cardiomyopathy, in aortic valve stenosis (avs), in hypertrophic cardiomyopathy (hcm), as well as in fabry disease (fd), however, exact cellular and molecular alterations behind the diastolic deterioration in these diseases are not yet completely characterized. |
2013-06-28 |
2023-08-12 |
human |
| Gregory A Grabowsk. Gaucher disease and other storage disorders. Hematology. American Society of Hematology. Education Program. vol 2012. 2013-06-27. PMID:23233555. |
examples include age-related neurodegenerative diseases (eg, parkinson disease and gaucher disease), idiopathic hypertrophic myocardiopathies, stroke and renal failure (eg, fabry disease), and nonalcoholic fatty liver disease/nonalcoholic steatohepatitis (nafld/nash) and atherosclerosis (eg, lysosomal acid lipase deficiencies). |
2013-06-27 |
2023-08-12 |
Not clear |
| James O Burton, John P Dormer, Helen E Binns, Warren P Pickerin. Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease. BMC nephrology. vol 13. 2013-05-24. PMID:22849389. |
fabry disease is an x-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase a. fabry disease is present in 4-5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. |
2013-05-24 |
2023-08-12 |
Not clear |
| E J Langereis, I E T van den Berg, D J J Halley, B J H M Poorthuis, F M Vaz, J H J Wokke, G E Linthors. Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process. JIMD reports. vol 9. 2013-02-25. PMID:23430557. |
recent studies have indicated that a proportion of patients with renal failure, left ventricular hypertrophy, or cryptogenic stroke have sequence variants in their agal a gene (fabry disease), which has resulted in an increase in diagnostic activities for this disorder. |
2013-02-25 |
2023-08-12 |
Not clear |
| Andrea Frustaci, Matteo Antonio Russo, Cristina Chiment. Diagnostic contribution of left ventricular endomyocardial biopsy in patients with clinical phenotype of hypertrophic cardiomyopathy. Human pathology. vol 44. issue 1. 2013-02-04. PMID:22939960. |
histology showed changes consistent/compatible with hypertrophic cardiomyopathy in 124 patients: myocardial storage disease in 18 due to fabry disease in 12 and glycogen-storage disease in 6 and myocardial infiltrative disease in 9 because of amyloidosis in 7 and sarcoidosis in 2. |
2013-02-04 |
2023-08-12 |
Not clear |
| Manish Motwani, Sanjay Banypersad, Peter Woolfson, Stephen Walde. Enzyme replacement therapy improves cardiac features and severity of Fabry disease. Molecular genetics and metabolism. vol 107. issue 1-2. 2013-01-29. PMID:22704481. |
although left ventricular hypertrophy (lvh) in fabry disease (fd) can improve with enzyme-replacement therapy (ert), the response is difficult to predict. |
2013-01-29 |
2023-08-12 |
Not clear |
| Gerald Mundigler, Martina Gaggl, Georg Heinze, Senta Graf, Manfred Zehetgruber, Natalija Lajic, Till Voigtländer, Christine Mannhalter, Raute Sunder-Plassmann, Eduard Paschke, Günter Fauler, Gere Sunder-Plassman. The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy. European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology. vol 12. issue 10. 2012-08-27. PMID:21857019. |
the endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of fabry disease in patients with left ventricular hypertrophy. |
2012-08-27 |
2023-08-12 |
Not clear |
| A Arévalo-Gómez, S Rivera-García, A López-Muñiz, R Barriales-Vill. [Left ventricular hypertrophy and end-stage renal failure of unknown etiology: Fabry disease?]. Revista clinica espanola. vol 212. issue 5. 2012-08-23. PMID:22112280. |
[left ventricular hypertrophy and end-stage renal failure of unknown etiology: fabry disease? |
2012-08-23 |
2023-08-12 |
Not clear |
| L Keeling, S K Suvarna, D A Hughe. Female Anderson--Fabry disease mimicking hypertrophic cardiomyopathy. Journal of clinical pathology. vol 65. issue 4. 2012-05-08. PMID:22049222. |
female anderson--fabry disease mimicking hypertrophic cardiomyopathy. |
2012-05-08 |
2023-08-12 |
Not clear |
| Mehdi Namdar, Jan Steffel, Sandra Jetzer, Christian Schmied, David Hürlimann, Giovanni G Camici, Fatih Bayrak, Danilo Ricciardi, Jayakeerthi Y Rao, Carlo de Asmundis, Gian-Battista Chierchia, Andrea Sarkozy, Thomas F Lüscher, Rolf Jenni, Firat Duru, Pedro Brugad. Value of electrocardiogram in the differentiation of hypertensive heart disease, hypertrophic cardiomyopathy, aortic stenosis, amyloidosis, and Fabry disease. The American journal of cardiology. vol 109. issue 4. 2012-04-04. PMID:22105784. |
value of electrocardiogram in the differentiation of hypertensive heart disease, hypertrophic cardiomyopathy, aortic stenosis, amyloidosis, and fabry disease. |
2012-04-04 |
2023-08-12 |
Not clear |
| Mehdi Namdar, Jan Steffel, Sandra Jetzer, Christian Schmied, David Hürlimann, Giovanni G Camici, Fatih Bayrak, Danilo Ricciardi, Jayakeerthi Y Rao, Carlo de Asmundis, Gian-Battista Chierchia, Andrea Sarkozy, Thomas F Lüscher, Rolf Jenni, Firat Duru, Pedro Brugad. Value of electrocardiogram in the differentiation of hypertensive heart disease, hypertrophic cardiomyopathy, aortic stenosis, amyloidosis, and Fabry disease. The American journal of cardiology. vol 109. issue 4. 2012-04-04. PMID:22105784. |
the aim of the present study was to assess the diagnostic value of common electrocardiographic (ecg) parameters to differentiate fabry disease (fd), amyloidosis, and nonobstructive hypertrophic cardiomyopathy (hc) from hypertensive heart disease (hhd) and aortic stenosis (as). |
2012-04-04 |
2023-08-12 |
Not clear |
| Olga Azevedo, Paulo Gaspar, Clara Sá Miranda, Damião Cunha, Rosa Medeiros, António Lourenç. Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient? Cardiology. vol 119. issue 3. 2012-02-20. PMID:21952291. |
we report a clinical case of a young female with fabry disease but without left ventricular hypertrophy, which fulfills the diagnostic criteria of left ventricular noncompaction (lvnc). |
2012-02-20 |
2023-08-12 |
Not clear |
| I Rohard, E Schaefer, C Kampmann, M Beck, A Ga. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. Journal of inherited metabolic disease. vol 31 Suppl 2. 2012-01-11. PMID:18941922. |
hypertrophic cardiomyopathy, for example measured by left posterior wall thickness (lpwt) of the heart, represents a major component of fabry disease morbidity in adult patients. |
2012-01-11 |
2023-08-12 |
Not clear |
| Naoki Nakagawa, Hiroki Maruyama, Takayuki Ishihara, Utako Seino, Jun-ichi Kawabe, Fumihiko Takahashi, Motoi Kobayashi, Atsushi Yamauchi, Yukie Sasaki, Naka Sakamoto, Hisanobu Ota, Yasuko Tanabe, Toshiharu Takeuchi, Toshihiro Takenaka, Kenjiro Kikuchi, Naoyuki Haseb. Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V). International heart journal. vol 52. issue 5. 2011-12-06. PMID:22008442. |
fabry disease is an x-linked lysosomal storage disorder caused by mutations of the α-galactosidase a gene (gla), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. |
2011-12-06 |
2023-08-12 |
Not clear |
| Christian Tanislav, Andreas Feustel, Wolfgang Franzen, Oliver Wüsten, Christian Schneider, Frank Reichenberger, Arndt Rolfs, Nicole Siewek. Persistent increase in cardiac troponin I in Fabry disease: a case report. BMC cardiovascular disorders. vol 11. 2011-11-08. PMID:21281467. |
hypertrophic cardiomyopathy is a frequent manifestation in fabry disease (fd) - an x-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase a. |
2011-11-08 |
2023-08-12 |
Not clear |
| Makoto Yoshimitsu, Koji Higuchi, Masaaki Miyata, Sean Devine, Andre Mattman, Sandra Sirrs, Jeffrey A Medin, Chuwa Tei, Toshihiro Takenak. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity. Journal of cardiology. vol 57. issue 3. 2011-08-30. PMID:21333496. |
fabry disease is an x-linked lysosomal storage disorder caused by mutations of the α-galactosidase a (gla) gene, and the disease is a relatively prevalent cause of left ventricular hypertrophy followed by conduction abnormalities and arrhythmias. |
2011-08-30 |
2023-08-12 |
Not clear |
| P Bouvagnet, G Millat, R Rousson, G Gilbert, G Derumeau. [Fabry disease among hypertrophic cardiomyopathy of genetic origin]. La Revue de medecine interne. vol 31 Suppl 2. 2011-06-07. PMID:21211671. |
[fabry disease among hypertrophic cardiomyopathy of genetic origin]. |
2011-06-07 |
2023-08-12 |
Not clear |