| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rebecca Backenroth, Ezekiel H Landau, Miri Goren, Annick Raas-Rothschil. Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame? The journal of sexual medicine. vol 7. issue 4 Pt 1. 2010-08-30. PMID:20102445. |
fabry disease is an x-linked multisystem disorder due to alpha galactosidase a deficiency leading to glycosphingolipid accumulation with a predilection for the vascular endothelium and affecting the cardiovascular, renal, and neurologic systems. |
2010-08-30 |
2023-08-12 |
Not clear |
| A Keilmann, D Hajioff, U Ramaswam. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. Journal of inherited metabolic disease. vol 32. issue 6. 2010-04-02. PMID:19876760. |
this study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with fabry disease in the fabry outcome survey (fos), an international database to assess the natural history of fabry disease and the efficacy of enzyme replacement therapy with agalsidase alpha. |
2010-04-02 |
2023-08-12 |
Not clear |
| Petra Olivova, Kristen van der Veen, Emmaline Cullen, Michael Rose, X Kate Zhang, Katherine B Sims, Joan Keutzer, Marsha F Brownin. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clinica chimica acta; international journal of clinical chemistry. vol 403. issue 1-2. 2009-07-06. PMID:19245803. |
fabry disease is an x-linked lysosomal storage disorder due to deficiency of alpha galactosidase a (agal, ec 3.2.1.22). |
2009-07-06 |
2023-08-12 |
Not clear |
| Bredy Pierre-Louis, Anil Kumar, William H Frishma. Fabry disease: cardiac manifestations and therapeutic options. Cardiology in review. vol 17. issue 1. 2009-02-12. PMID:19092368. |
fabry disease is a rare inherited lysosomal storage disorder caused by the partial or complete deficiency of the lysosomal enzyme alpha galactosidase a (alpha-gal a), resulting in excess cellular glycosphingolipid deposition. |
2009-02-12 |
2023-08-12 |
Not clear |
| Bernard Bénichou, Sunita Goyal, Crystal Sung, Andrea M Norfleet, Fanny O'Brie. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Molecular genetics and metabolism. vol 96. issue 1. 2009-01-21. PMID:19022694. |
fabry disease results from a genetic deficiency of alpha-galactosidase a (alpha gal) and the impaired catabolism of globotriasoylceramide (gl-3) and other glycosphingolipid substrates, which then accumulate pathogenically within most cells. |
2009-01-21 |
2023-08-12 |
human |
| Philippe Mougenot, Olivier Lidove, Catherine Caillaud, Philippe Arnaud, Thomas Pap. Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance. European journal of clinical pharmacology. vol 64. issue 6. 2008-11-13. PMID:18224310. |
fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. |
2008-11-13 |
2023-08-12 |
Not clear |
| Philippe Mougenot, Olivier Lidove, Catherine Caillaud, Philippe Arnaud, Thomas Pap. Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance. European journal of clinical pharmacology. vol 64. issue 6. 2008-11-13. PMID:18224310. |
two women treated with agalsidase alpha for fabry disease developed severe heart dysfunctions a few months after the beginning of enzyme replacement therapy (ert). |
2008-11-13 |
2023-08-12 |
Not clear |
| Anouk C Vedder, Frank Breunig, Wilma E Donker-Koopman, Kevin Mills, Elisabeth Young, Bryan Winchester, Ineke J M Ten Berge, Johanna E M Groener, Johannes M F G Aerts, Christoph Wanner, Carla E M Holla. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Molecular genetics and metabolism. vol 94. issue 3. 2008-09-15. PMID:18424138. |
two different enzyme preparations are used for the treatment of fabry disease patients, agalsidase alpha (replagal, shire) and agalsidase beta (fabrazyme, genzyme). |
2008-09-15 |
2023-08-12 |
Not clear |
| Toya Ohashi, Sayoko Iizuka, Hiroyuki Ida, Yoshikatsu Et. Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Molecular genetics and metabolism. vol 94. issue 3. 2008-09-15. PMID:18456533. |
studies have demonstrated that both enzyme preparations currently available for treatment of fabry disease (i.e., agalsidase beta and agalsidase alpha) elicit immune responses in the majority of patients which negatively influences the reduction of urinary globotriaosylceramide concentration. |
2008-09-15 |
2023-08-12 |
mouse |
| Markus Ries, Joe T Clarke, Catharina Whybra, Atul Mehta, Kenneth S Loveday, Roscoe O Brady, Michael Beck, Raphael Schiffman. Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents. Journal of clinical pharmacology. vol 47. issue 10. 2007-12-07. PMID:17698592. |
enzyme replacement in fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents. |
2007-12-07 |
2023-08-12 |
Not clear |
| Markus Ries, Joe T Clarke, Catharina Whybra, Atul Mehta, Kenneth S Loveday, Roscoe O Brady, Michael Beck, Raphael Schiffman. Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents. Journal of clinical pharmacology. vol 47. issue 10. 2007-12-07. PMID:17698592. |
this multicenter, open-label study evaluated pharmacokinetics, pharmacodynamics, and safety of agalsidase alpha in pediatric compared with adult patients with fabry disease. |
2007-12-07 |
2023-08-12 |
Not clear |
| Carmen Navarro, Susana Teijeira, Carmen Dominguez, Jose M Fernandez, Eloy Rivas, Carmen Fachal, Soraya Barrera, Carmen Rodriguez, Pilar Iranz. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients. Acta neuropathologica. vol 111. issue 2. 2007-10-30. PMID:16463201. |
fabry disease is a rare x-linked lysosomal storage disorder due to alpha galactosidase a deficiency, better known after the advent of a promising treatment, a periodical enzyme replacement. |
2007-10-30 |
2023-08-12 |
Not clear |
| Hayet Kaaroud, Soumaya Béji, K Boubaker, Fatma Ben Moussa, Fethi Ben Hamida, Rym Goucha, Mohamed F Ben Dridi, H Ben Turkia, Adel Khede. [Renal involvement in Fabry disease]. La Tunisie medicale. vol 85. issue 3. 2007-09-27. PMID:17668583. |
fabry disease is an x-linked recessive lysosomial storage disorder that is caused by deficient activity of alpha galactosidase a. renal involvement occurs generally in hemizygous forms. |
2007-09-27 |
2023-08-12 |
Not clear |
| D Hajioff, S Hegemann, S Hegemannn, G Conti, M Beck, G Sunder-Plassmann, U Widmer, A Mehta, A Keilman. Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey. European journal of clinical investigation. vol 36. issue 9. 2007-04-02. PMID:16919050. |
agalsidase alpha and hearing in fabry disease: data from the fabry outcome survey. |
2007-04-02 |
2023-08-12 |
Not clear |
| Aura Tudor, Adriana Muşat, Ana Doscan, Maria Bari, Carmen Zapucioiu, Elena Urdea, D Cochior, D Peţ. Clinical spectrum of Anderson Fabry disease in a Romanian family. Romanian journal of internal medicine = Revue roumaine de medecine interne. vol 44. issue 2. 2007-02-22. PMID:17236300. |
anderson fabry disease (alpha galactosidase a deficiency) is an x-linked recessive lysosomal storage disorder; alpha galactosidase a deficiency results in accumulation of neutral glycosphingolipids, especially globotriaosylceramide (gb3), in various cell types promoting development of disease with renal, cardiovascular, and cerebrovascular involvement. |
2007-02-22 |
2023-08-12 |
Not clear |
| Salvatore A Cilmi, Brad J Karalius, Wendy Choy, R Neal Smith, Joan R Butterto. Fabry disease in mice protects against lethal disease caused by Shiga toxin-expressing enterohemorrhagic Escherichia coli. The Journal of infectious diseases. vol 194. issue 8. 2006-11-14. PMID:16991089. |
fabry disease is an x-linked recessive disorder in which affected persons lack alpha-galactosidase a (alpha -gala), which leads to excess glycosphingolipids in tissues, mainly globotriaosylceramide (gb3). |
2006-11-14 |
2023-08-12 |
mouse |
| Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J Desnic. High incidence of later-onset fabry disease revealed by newborn screening. American journal of human genetics. vol 79. issue 1. 2006-08-14. PMID:16773563. |
the classic phenotype of fabry disease, x-linked alpha -galactosidase a (alpha -gal a) deficiency, has an estimated incidence of approximately 1 in 50,000 males. |
2006-08-14 |
2023-08-12 |
Not clear |
| Gabor E Linthorst, Carla E M Hollak, Wilma E Donker-Koopman, Anneke Strijland, Johannes M F G Aert. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney international. vol 66. issue 4. 2005-02-25. PMID:15458455. |
enzyme therapy for fabry disease: neutralizing antibodies toward agalsidase alpha and beta. |
2005-02-25 |
2023-08-12 |
Not clear |
| Charles Masson, Idrissa Cissé, Virginie Simon, Paolo Insalaco, Maurice Audra. Fabry disease: a review. Joint bone spine. vol 71. issue 5. 2005-02-02. PMID:15474388. |
fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-galactosidase a (alpha gala) due to mutations in the gal gene at xq22. |
2005-02-02 |
2023-08-12 |
Not clear |
| Charles Masson, Idrissa Cissé, Virginie Simon, Paolo Insalaco, Maurice Audra. Fabry disease: a review. Joint bone spine. vol 71. issue 5. 2005-02-02. PMID:15474388. |
the recent introduction of enzyme replacement therapy with recombinant agalsidase alpha or beta has been a major breakthrough in the treatment of fabry disease. |
2005-02-02 |
2023-08-12 |
Not clear |