| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Kate Hanneman, Gauri R Karur, Syed Wasim, Rachel M Wald, Robert M Iwanochko, Chantal F More. Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease. Radiology. vol 294. issue 1. 2020-04-20. PMID:31660802. |
left ventricular hypertrophy and late gadolinium enhancement at cardiac mri are associated with adverse cardiac events in fabry disease. |
2020-04-20 |
2023-08-13 |
Not clear |
| Sergey Moiseev, Ekaterina Karovaikina, Alexey Moiseev, Nikolai Bulanov, Victor Fomi. Strategies of Screening for Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy. Mayo Clinic proceedings. vol 94. issue 8. 2019-12-30. PMID:31378240. |
strategies of screening for fabry disease in patients with unexplained left ventricular hypertrophy. |
2019-12-30 |
2023-08-13 |
Not clear |
| Darrell B Newman, Michael J Ackerma. In reply-Strategies of Screening for Fabry Disease in Patients With Unexplained Left Ventricular Hypertrophy. Mayo Clinic proceedings. vol 94. issue 8. 2019-12-30. PMID:31378242. |
in reply-strategies of screening for fabry disease in patients with unexplained left ventricular hypertrophy. |
2019-12-30 |
2023-08-13 |
Not clear |
| Jonas Müntze, Tim Salinger, Daniel Gensler, Christoph Wanner, Peter Nordbec. Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. European heart journal. vol 39. issue 20. 2019-11-18. PMID:29452394. |
treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of fabry disease with chaperone therapy. |
2019-11-18 |
2023-08-13 |
Not clear |
| Martin S Maron, Winnie Xin, Katherine B Sims, Rita Butler, Tammy S Haas, Ethan J Rowin, Robert J Desnick, Barry J Maro. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. The American journal of medicine. vol 131. issue 2. 2019-06-26. PMID:28943383. |
identification of fabry disease in a tertiary referral cohort of patients with hypertrophic cardiomyopathy. |
2019-06-26 |
2023-08-13 |
Not clear |
| Martin S Maron, Winnie Xin, Katherine B Sims, Rita Butler, Tammy S Haas, Ethan J Rowin, Robert J Desnick, Barry J Maro. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. The American journal of medicine. vol 131. issue 2. 2019-06-26. PMID:28943383. |
fabry disease is an x-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase a due to mutations in the gla gene, which may be associated with increased left ventricular wall thickness and mimic the morphologic features of hypertrophic cardiomyopathy. |
2019-06-26 |
2023-08-13 |
Not clear |
| Albert Hagège, Patricia Réant, Gilbert Habib, Thibaud Damy, Gilles Barone-Rochette, Gilles Soulat, Erwan Donal, Dominique P Germai. Fabry disease in cardiology practice: Literature review and expert point of view. Archives of cardiovascular diseases. vol 112. issue 4. 2019-06-10. PMID:30826269. |
in hypertrophic cardiomyopathy cohorts, up to 1% of patients have been diagnosed with fabry disease. |
2019-06-10 |
2023-08-13 |
Not clear |
| Woo-Shik Kim, Hyun Soo Kim, Jinho Shin, Jong Chun Park, Han-Wook Yoo, Toshihiro Takenaka, Chuwa Te. Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy. Journal of Korean medical science. vol 34. issue 7. 2019-05-31. PMID:30804731. |
prevalence of fabry disease in korean men with left ventricular hypertrophy. |
2019-05-31 |
2023-08-13 |
Not clear |