| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretch. Early Renal Involvement in a Girl with Classic Fabry Disease. Case reports in nephrology. vol 2017. 2020-09-30. PMID:29098097. |
fabry disease is an x-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase a; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. |
2020-09-30 |
2023-08-13 |
Not clear |
| 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. |
fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase a and resulting accumulation of globotriaosylceramide. |
2020-09-30 |
2023-08-13 |
human |
| Elisa Cinotti, Luca Provvidenziale, Michele Fimiani, Jean Luc Perrot, Frederic Cambazard, Pietro Rubegn. Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report. Diseases (Basel, Switzerland). vol 6. issue 3. 2020-09-29. PMID:29954050. |
fabry disease (fd) is a rare x-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase that leads to a systemic accumulation of globotriaosylceramide. |
2020-09-29 |
2023-08-13 |
Not clear |
| Salem Gaballa, Avan AlJaf, Jane Lindsay, Kashyap Patel, Kyaw M Hlain. Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene. Cureus. vol 12. issue 7. 2020-09-28. PMID:32699723. |
fabry disease (fd) is an x-linked recessive lysosomal storage disease caused by a mutation of the galactosidase alpha (gla) gene, leading to deficiency of α-galactosidase a (alpha-gal a). |
2020-09-28 |
2023-08-13 |
Not clear |
| Ândrea Virgínia Chaves-Markman, Manuel Markman, Eveline Barros Calado, Ricardo Flores Pires, Marcelo Antônio Oliveira Santos-Veloso, Catarina Maria Fonseca Pereira, Andréa Bezerra de Melo da Silveira Lordsleem, Sandro Gonçalves de Lima, Brivaldo Markman Filho, Dinaldo Cavalcanti de Oliveir. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? Arquivos brasileiros de cardiologia. vol 113. issue 1. 2020-03-06. PMID:31291414. |
fabry disease (fd) is an x-linked lysosomal storage disorder caused by mutations in the alpha galactosidase a gene (gla) that lead to the enzymatic deficiency of alpha galactosidase (α-gal a), resulting in the accumulation of globotriaosylceramide (gb3) and globotriaosylsphingosine (lyso-gb3), causing multiple organ dysfunctions. |
2020-03-06 |
2023-08-13 |
Not clear |
| Xuling Zhu, Ling Yin, Matt Theisen, Jenny Zhuo, Summar Siddiqui, Becca Levy, Vladimir Presnyak, Andrea Frassetto, Jaclyn Milton, Timothy Salerno, Kerry E Benenato, Joe Milano, Andy Lynn, Staci Sabnis, Kristine Burke, Gilles Besin, Christine M Lukacs, Lin T Guey, Patrick F Finn, Paolo G V Martin. Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates. American journal of human genetics. vol 104. issue 4. 2020-02-03. PMID:30879639. |
fabry disease is an x-linked lysosomal storage disease caused by loss of alpha galactosidase a (α-gal a) activity and is characterized by progressive accumulation of globotriaosylceramide and its analogs in all cells and tissues. |
2020-02-03 |
2023-08-13 |
mouse |
| Dylan J Mac Lochlainn, Douglas G J McKechnie, Atul B Mehta, Derralynn A Hughe. The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. Molecular genetics and metabolism. vol 123. issue 2. 2019-01-14. PMID:29055531. |
fabry disease is a rare x-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase a. |
2019-01-14 |
2023-08-13 |
Not clear |
| Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretch. Major Organic Involvement in Women with Fabry Disease in Argentina. TheScientificWorldJournal. vol 2018. 2018-10-15. PMID:29950951. |
fabry disease (fd) is an x-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase a enzyme. |
2018-10-15 |
2023-08-13 |
Not clear |
| L Lavalle, A S Thomas, B Beaton, H Ebrahim, M Reed, U Ramaswami, P Elliott, A B Mehta, D A Hughe. Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. PloS one. vol 13. issue 4. 2018-07-09. PMID:29621274. |
fabry disease (fd) results from x-linked inheritance of a mutation in the gla gene, encoding for alpha galactosidase a, and is characterized by heterogeneous clinical manifestations. |
2018-07-09 |
2023-08-13 |
Not clear |
| María A Azancot, Josefa Vila, Carmen Domínguez, Xavier Serres, Eugenia Espine. Multiple parapelvic cysts in Fabry disease. Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. vol 36. issue 3. 2017-12-11. PMID:27061865. |
fabry disease is an inherited, x-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase a (alpha-gla a), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. |
2017-12-11 |
2023-08-13 |
Not clear |
| Cassiano Augusto Braga Silva, Fellype Carvalho Barreto, Marlene Antonia Dos Reis, José Andrade Moura Junior, Constança Margarida Sampaio Cru. Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening. Nephron. vol 134. issue 4. 2017-03-09. PMID:27576502. |
fabry disease (fd) is a lysosomal storage disorder caused by enzyme α galactosidase a (α-gal a) deficiency due to mutations in the galactosidase alpha (gla) gene. |
2017-03-09 |
2023-08-13 |
Not clear |
| Eleonora Riccio, Antonio Pisan. [The switch of enzyme therapy in Fabry disease]. Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia. vol 31. issue 4. 2016-06-16. PMID:25098458. |
fabry disease (fd) is a multiorgan x-linked lysosomal storage disorder resulted from the deficiency of the lysosomal enzyme alpha galactosidase a. |
2016-06-16 |
2023-08-13 |
Not clear |
| Sachie Nakano, Takahiro Tsukimura, Tadayasu Togawa, Toya Ohashi, Masahisa Kobayashi, Katsuyoshi Takayama, Yukuharu Kobayashi, Hiroshi Abiko, Masatsugu Satou, Tohru Nakahata, David G Warnock, Hitoshi Sakuraba, Futoshi Shibasak. Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. PloS one. vol 10. issue 6. 2016-03-17. PMID:26083343. |
as immunochromatography is a handy and simple assay system which can be available at bedside, this assay method would be extremely useful for quick evaluation or first screening of serum antibodies against agalsidase alpha or agalsidase beta in fabry disease with enzyme replacement therapy. |
2016-03-17 |
2023-08-13 |
Not clear |
| Antonio Pisani, Caterina Porto, Generoso Andria, Giancarlo Parent. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease. Journal of inherited metabolic disease. vol 37. issue 1. 2014-09-09. PMID:23974650. |
synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with fabry disease. |
2014-09-09 |
2023-08-12 |
Not clear |
| Alison S Thomas, Atul B Meht. Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature? Expert opinion on medical diagnostics. vol 7. issue 6. 2014-06-09. PMID:24128193. |
fabry disease (fd) is an x-linked disorder of glycosphingolipid metabolism caused by deficiency of the lysosomal enzyme alpha galactosidase a. |
2014-06-09 |
2023-08-12 |
Not clear |
| Akemi Tanaka, Taisuke Takeda, Takao Hoshina, Kazuyoshi Fukai, Tsunekazu Yaman. Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha. Journal of inherited metabolic disease. vol 33 Suppl 3. 2014-04-08. PMID:20567910. |
enzyme replacement therapy in a patient with fabry disease and the development of ige antibodies against agalsidase beta but not agalsidase alpha. |
2014-04-08 |
2023-08-12 |
Not clear |
| Akemi Tanaka, Taisuke Takeda, Takao Hoshina, Kazuyoshi Fukai, Tsunekazu Yaman. Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha. Journal of inherited metabolic disease. vol 33 Suppl 3. 2014-04-08. PMID:20567910. |
we present the case of a patient with fabry disease who developed antiagalsidase beta ige antibodies without cross-reactivity to agalsidase alpha. |
2014-04-08 |
2023-08-12 |
Not clear |
| Olaf A Bodamer, Britt Johnson, Angela Dajnok. Diagnosing lysosomal storage disorders: Fabry disease. Current protocols in human genetics. vol Chapter 17. 2013-06-11. PMID:23595598. |
fabry disease (fd) is an x-linked lysosomal storage disorder due to deficiency of alpha galactosidase a (gla). |
2013-06-11 |
2023-08-12 |
Not clear |
| Gabor E Linthorst, Johannes M F G Aert. Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:20938807. |
letter concerning "enzyme replacement therapy in a patient with fabry disease and the development of ige antibodies against agalsidase beta but not agalsidase alpha", by tanaka et al. |
2011-05-12 |
2023-08-12 |
Not clear |
| . [Evaluation of patients with Fabry disease in Argentina]. Medicina. vol 70. issue 1. 2011-02-03. PMID:20228022. |
fabry disease is an x- linked lysosomal disorder due to deficient activity of the enzyme alpha galactosidase a which leads to multisystemic storage of globotriaosylceramide with neurologic, gastrointestinal, cardiac, renal, skin and ophtalmological involvement. |
2011-02-03 |
2023-08-12 |
Not clear |