These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Evaluation of Beta 2-Microglobulin, Cystatin C, and Lipocalin-2 as Renal Biomarkers for Patients with Fabry Disease. Braga MC; Fonseca FLA; Marins MM; Gomes CP; Bacci MR; Martins AM; D'Almeida V Nephron; 2019; 143(4):217-227. PubMed ID: 31216546 [TBL] [Abstract][Full Text] [Related]
7. Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. Cigna D; D'Anna C; Zizzo C; Francofonte D; Sorrentino I; Colomba P; Albeggiani G; Armini A; Bianchi L; Bini L; Duro G Mol Biosyst; 2013 Jun; 9(6):1162-8. PubMed ID: 23385635 [TBL] [Abstract][Full Text] [Related]
8. 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; 122(1-2):121-125. PubMed ID: 28847675 [TBL] [Abstract][Full Text] [Related]
9. Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients. Heywood WE; Doykov I; Spiewak J; Hallqvist J; Mills K; Nowak A Biochim Biophys Acta Mol Basis Dis; 2019 Oct; 1865(10):2726-2735. PubMed ID: 31319156 [TBL] [Abstract][Full Text] [Related]
10. A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3). Perrone A; Mohamed S; Donadio V; Liguori R; Contin M Molecules; 2021 Dec; 26(23):. PubMed ID: 34885938 [TBL] [Abstract][Full Text] [Related]
11. 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; 21(1):58. PubMed ID: 32087678 [TBL] [Abstract][Full Text] [Related]
12. 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; 38():101466. PubMed ID: 31715500 [TBL] [Abstract][Full Text] [Related]
13. The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease. Alharbi FJ; Baig S; Rambhatla SB; Vijapurapu R; Auray-Blais C; Boutin M; Steeds R; Wheeldon N; Dawson C; Geberhiwot T Clin Chim Acta; 2020 Jan; 500():120-127. PubMed ID: 31654629 [TBL] [Abstract][Full Text] [Related]
14. Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis. Politei J; Frabasil J; Durand C; Di Pietrantonio S; Fernandez A; Albertón V; Velasquez Rivas D; Barriales-Villa R; Larrañaga-Moreira J; Schenone AB Biochim Biophys Acta Mol Basis Dis; 2021 Jan; 1867(1):165985. PubMed ID: 33022387 [TBL] [Abstract][Full Text] [Related]
15. Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping. Roller FC; Fuest S; Meyer M; Harth S; Gündüz D; Bauer P; Schneider C; Rolfs A; Krombach GA; Tanislav C Rofo; 2019 Oct; 191(10):932-939. PubMed ID: 30754056 [TBL] [Abstract][Full Text] [Related]
16. Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. Lavalle L; Thomas AS; Beaton B; Ebrahim H; Reed M; Ramaswami U; Elliott P; Mehta AB; Hughes DA PLoS One; 2018; 13(4):e0193550. PubMed ID: 29621274 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]