| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Toru Kubo, Yuri Ochi, Yuichi Baba, Takayoshi Hirota, Katsutoshi Tanioka, Naohito Yamasaki, Makoto Yoshimitsu, Koji Higuchi, Toshihiro Takenaka, Kimiko Nakajima, Tadayasu Togawa, Takahiro Tsukimura, Shigetoshi Sano, Chuwa Tei, Hitoshi Sakuraba, Hiroaki Kitaok. Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. Journal of cardiology. vol 69. issue 1. 2017-06-23. PMID:27554049. |
the prevalence of fabry disease (fd) in japanese patients presenting with unexplained left ventricular hypertrophy (lvh) has remained unclear. |
2017-06-23 |
2023-08-13 |
Not clear |
| F Morsbach, S Gordic, C Gruner, M Niemann, R Goetti, A Gotschy, S Kozerke, H Alkadhi, R Mank. Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy. International journal of cardiology. vol 217. 2017-06-13. PMID:27183453. |
quantitative comparison of 2d and 3d late gadolinium enhancement mr imaging in patients with fabry disease and hypertrophic cardiomyopathy. |
2017-06-13 |
2023-08-13 |
Not clear |
| F Morsbach, S Gordic, C Gruner, M Niemann, R Goetti, A Gotschy, S Kozerke, H Alkadhi, R Mank. Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy. International journal of cardiology. vol 217. 2017-06-13. PMID:27183453. |
this study aims to determine whether the quantification of myocardial fibrosis in patients with fabry disease (fd) and hypertrophic cardiomyopathy (hcm) using a late gadolinium enhancement (lge) singlebreath-hold three-dimensional (3d) inversion recovery magnetic resonance (mr) imaging sequence is comparable with a clinically established two-dimensional (2d) multi-breath-hold sequence. |
2017-06-13 |
2023-08-13 |
Not clear |
| Martina Gaggl, Natalija Lajic, Georg Heinze, Till Voigtländer, Raute Sunder-Plassmann, Eduard Paschke, Günter Fauler, Gere Sunder-Plassmann, Gerald Mundigle. Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy. International journal of medical sciences. vol 13. issue 5. 2017-04-17. PMID:27226774. |
screening for fabry disease by urinary globotriaosylceramide isoforms measurement in patients with left ventricular hypertrophy. |
2017-04-17 |
2023-08-13 |
Not clear |
| Martina Gaggl, Natalija Lajic, Georg Heinze, Till Voigtländer, Raute Sunder-Plassmann, Eduard Paschke, Günter Fauler, Gere Sunder-Plassmann, Gerald Mundigle. Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy. International journal of medical sciences. vol 13. issue 5. 2017-04-17. PMID:27226774. |
left ventricular hypertrophy (lvh) is a frequent echocardiographic feature in fabry disease (fd) and in severe cases may be confused with hypertrophic cardiomyopathy (hcm) of other origin. |
2017-04-17 |
2023-08-13 |
Not clear |
| Jiwon Seo, Minji Kim, Geu-Ru Hong, Dae-Seong Kim, Jang-Won Son, In Jeong Cho, Chi Young Shim, Hyuk-Jae Chang, Jong-Won Ha, Namsik Chun. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis. Journal of human genetics. vol 61. issue 9. 2017-04-06. PMID:27225851. |
fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis. |
2017-04-06 |
2023-08-13 |
Not clear |
| Jiwon Seo, Minji Kim, Geu-Ru Hong, Dae-Seong Kim, Jang-Won Son, In Jeong Cho, Chi Young Shim, Hyuk-Jae Chang, Jong-Won Ha, Namsik Chun. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis. Journal of human genetics. vol 61. issue 9. 2017-04-06. PMID:27225851. |
this study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of fabry disease (fd) among hypertrophic cardiomyopathy (hcm) patients. |
2017-04-06 |
2023-08-13 |
Not clear |
| Odette A Rodda, Matthew Lynch, Sarah Parson. Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy. Journal of forensic and legal medicine. vol 42. 2017-03-06. PMID:27213840. |
sudden death following av node ablation in a man with fabry disease mimicking hypertrophic cardiomyopathy. |
2017-03-06 |
2023-08-13 |
Not clear |
| Odette A Rodda, Matthew Lynch, Sarah Parson. Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy. Journal of forensic and legal medicine. vol 42. 2017-03-06. PMID:27213840. |
we present a case of fabry disease with an uncommon pattern of asymmetrical hypertrophy with septal prominence resulting in an erroneous diagnosis of hypertrophic cardilmyopathy clinically. |
2017-03-06 |
2023-08-13 |
Not clear |
| Odette A Rodda, Matthew Lynch, Sarah Parson. Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy. Journal of forensic and legal medicine. vol 42. 2017-03-06. PMID:27213840. |
fabry disease continues to be an important misdiagnosis of hypertrophic cardiomyopathy in a clinical setting. |
2017-03-06 |
2023-08-13 |
Not clear |
| 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 |