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476 related items for PubMed ID: 32418857
1. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females. Stiles AR, Zhang H, Dai J, McCaw P, Beasley J, Rehder C, Koeberl DD, McDonald M, Bali DS, Young SP. Mol Genet Metab; 2020 Jul; 130(3):209-214. PubMed ID: 32418857 [Abstract] [Full Text] [Related]
2. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. Nowak A, Mechtler T, Kasper DC, Desnick RJ. Mol Genet Metab; 2017 Aug; 121(4):320-324. PubMed ID: 28663131 [Abstract] [Full Text] [Related]
3. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing. Delarosa-Rodríguez R, Santotoribio JD, Paula HA, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC. Clin Genet; 2021 Jun; 99(6):761-771. PubMed ID: 33527381 [Abstract] [Full Text] [Related]
4. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S. Genet Med; 2019 Jan; 21(1):44-52. PubMed ID: 29543226 [Abstract] [Full Text] [Related]
5. The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology. Savostyanov K, Pushkov A, Zhanin I, Mazanova N, Trufanov S, Pakhomov A, Alexeeva A, Sladkov D, Asanov A, Fisenko A. Orphanet J Rare Dis; 2022 May 16; 17(1):199. PubMed ID: 35578305 [Abstract] [Full Text] [Related]
6. Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease. Sueoka H, Ichihara J, Tsukimura T, Togawa T, Sakuraba H. PLoS One; 2015 May 16; 10(5):e0127048. PubMed ID: 25965380 [Abstract] [Full Text] [Related]
7. Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy. Sakuraba H, Togawa T, Tsukimura T, Kato H. Clin Exp Nephrol; 2018 Aug 16; 22(4):843-849. PubMed ID: 29288396 [Abstract] [Full Text] [Related]
8. Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease. Olivera S, Iñiguez C, García-Fernández L, Sierra JL, Camón AM, Menao S, Torralba MÁ. Mult Scler Relat Disord; 2020 Feb 16; 38():101466. PubMed ID: 31715500 [Abstract] [Full Text] [Related]
9. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, Ishige N, Suzuki K, Kitagawa T, Sakuraba H. Mol Genet Metab; 2010 Jul 16; 100(3):257-61. PubMed ID: 20409739 [Abstract] [Full Text] [Related]
10. Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease. Alharbi FJ, Baig S, Auray-Blais C, Boutin M, Ward DG, Wheeldon N, Steed R, Dawson C, Hughes D, Geberhiwot T. J Inherit Metab Dis; 2018 Mar 16; 41(2):239-247. PubMed ID: 29294190 [Abstract] [Full Text] [Related]
11. A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. Talbot A, Nicholls K, Fletcher JM, Fuller M. Mol Genet Metab; 2017 Sep 16; 122(1-2):121-125. PubMed ID: 28847675 [Abstract] [Full Text] [Related]
12. Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. Ferreira S, Auray-Blais C, Boutin M, Lavoie P, Nunes JP, Martins E, Garman S, Oliveira JP. Clin Chim Acta; 2015 Jul 20; 447():96-104. PubMed ID: 26070511 [Abstract] [Full Text] [Related]
13. [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena]. Alfano G, Ganda N, Cerami C, Mori G, Fontana F, Cappelli G. G Ital Nefrol; 2018 Mar 20; 35(2):. PubMed ID: 29582965 [Abstract] [Full Text] [Related]
15. Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience. Gragnaniello V, Burlina AP, Polo G, Giuliani A, Salviati L, Duro G, Cazzorla C, Rubert L, Maines E, Germain DP, Burlina AB. Biomolecules; 2021 Jun 27; 11(7):. PubMed ID: 34199132 [Abstract] [Full Text] [Related]
16. Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients. Shiga T, Tsukimura T, Kubota T, Togawa T, Sakuraba H. Intern Med; 2024 Jun 01; 63(11):1531-1537. PubMed ID: 37866916 [Abstract] [Full Text] [Related]
20. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. Mallett A, Kearey P, Cameron A, Healy H, Denaro C, Thomas M, Lee VW, Stark S, Fuller M, Hoy WE. BMC Nephrol; 2020 Feb 22; 21(1):58. PubMed ID: 32087678 [Abstract] [Full Text] [Related] Page: [Next] [New Search]