184 related articles for article (PubMed ID: 17040996)
21. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
Zemánek D; Januška J; Honěk T; Čurila K; Kubánek M; Šindelářová Š; Zahálková L; Klofáč P; Laštůvková E; Lichnerová E; Aiglová R; Lhotský J; Vondrák J; Dostálová G; Táborský M; Kasper D; Linhart A
ESC Heart Fail; 2022 Dec; 9(6):4160-4166. PubMed ID: 36087038
[TBL] [Abstract][Full Text] [Related]
22. Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
De Schoenmakere G; Poppe B; Wuyts B; Claes K; Cassiman D; Maes B; Verbeelen D; Vanholder R; Kuypers DR; Lameire N; De Paepe A; Terryn W
Nephrol Dial Transplant; 2008 Dec; 23(12):4044-8. PubMed ID: 18596132
[TBL] [Abstract][Full Text] [Related]
23. Prevalence of Fabry's disease within hemodialysis patients in Spain.
Herrera J; Miranda CS
Clin Nephrol; 2014 Feb; 81(2):112-20. PubMed ID: 24365053
[TBL] [Abstract][Full Text] [Related]
24. Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
Brouns R; Sheorajpanday R; Braxel E; Eyskens F; Baker R; Hughes D; Mehta A; Timmerman T; Vincent MF; De Deyn PP
Clin Neurol Neurosurg; 2007 Jul; 109(6):479-84. PubMed ID: 17509753
[TBL] [Abstract][Full Text] [Related]
25. [Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review].
Müller MJ; Müller KM; Dascalescu A; Whybra C; Baron K; Scheurich A; Mann K; Beck M; Schmidt LG; Fellgiebel A
Fortschr Neurol Psychiatr; 2005 Nov; 73(11):687-93. PubMed ID: 16283613
[TBL] [Abstract][Full Text] [Related]
26. Clinical and molecular characterization of an extended family with Fabry disease.
Wattanasirichaigoon D; Svasti J; Cairns JR; Tangnararatchakit K; Visudtibhan A; Keeratichamroen S; Ngiwsara L; Khowsathit P; Onkoksoong T; Lekskul A; Mongkolsiri D; Jariengprasert C; Thawil C; Ruencharoen S
J Med Assoc Thai; 2006 Sep; 89(9):1528-35. PubMed ID: 17100396
[TBL] [Abstract][Full Text] [Related]
27. [A family with a rare disease].
Capelo J; Soares C; Carragoso A; Ribeiro P; Girão F; Henriques P
Acta Med Port; 2010; 23(3):499-504. PubMed ID: 20654270
[TBL] [Abstract][Full Text] [Related]
28. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Nakao S; Kodama C; Takenaka T; Tanaka A; Yasumoto Y; Yoshida A; Kanzaki T; Enriquez AL; Eng CM; Tanaka H; Tei C; Desnick RJ
Kidney Int; 2003 Sep; 64(3):801-7. PubMed ID: 12911529
[TBL] [Abstract][Full Text] [Related]
29. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Froissart R; Guffon N; Vanier MT; Desnick RJ; Maire I
Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
[TBL] [Abstract][Full Text] [Related]
30. Nailfold capillaroscopy: Specific features in Fabry disease.
Wasik JS; Simon RW; Meier T; Steinmann B; Amann-Vesti BR
Clin Hemorheol Microcirc; 2009; 42(2):99-106. PubMed ID: 19433883
[TBL] [Abstract][Full Text] [Related]
31. Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.
Desnick RJ; Banikazemi M
Nephrol Ther; 2006 Jan; 2 Suppl 2():S172-85. PubMed ID: 17373219
[TBL] [Abstract][Full Text] [Related]
32. Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.
Massaccesi L; Burlina A; Baquero CJ; Goi G; Burlina AP; Tettamanti G
Clin Biochem; 2011 Jul; 44(10-11):916-21. PubMed ID: 21515249
[TBL] [Abstract][Full Text] [Related]
33. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Olivova P; van der Veen K; Cullen E; Rose M; Zhang XK; Sims KB; Keutzer J; Browning MF
Clin Chim Acta; 2009 May; 403(1-2):159-62. PubMed ID: 19245803
[TBL] [Abstract][Full Text] [Related]
34. Clinical spectrum of Anderson Fabry disease in a Romanian family.
Tudor A; Muşat A; Doscan A; Bari M; Zapucioiu C; Urdea E; Cochior D; Peţa D
Rom J Intern Med; 2006; 44(2):201-10. PubMed ID: 17236300
[TBL] [Abstract][Full Text] [Related]
35. Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.
Caudron E; Prognon P; Germain DP
Eur J Med Genet; 2015 Dec; 58(12):681-4. PubMed ID: 26520229
[TBL] [Abstract][Full Text] [Related]
36. Fabry disease: a new approach for the screening of females in high-risk groups.
Pasqualim G; Simon L; Sperb-Ludwig F; Burin MG; Michelin-Tirelli K; Giugliani R; Matte U
Clin Biochem; 2014 May; 47(7-8):657-62. PubMed ID: 24582695
[TBL] [Abstract][Full Text] [Related]
37. The hearing status in 12 female and 15 male Japanese Fabry patients.
Sakurai Y; Kojima H; Shiwa M; Ohashi T; Eto Y; Moriyama H
Auris Nasus Larynx; 2009 Dec; 36(6):627-32. PubMed ID: 19261412
[TBL] [Abstract][Full Text] [Related]
38. Kidney transplantation and enzyme alpha-galactosidase A therapy in patient with Fabry disease: a case report.
Dziemianko I; Jezior D; Boratyńska M; Patrzałek D; Kuźniar J; Szyber P; Klinger M
Transplant Proc; 2007 Nov; 39(9):2925-7. PubMed ID: 18022018
[TBL] [Abstract][Full Text] [Related]
39. Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.
Üçeyler N; Böttger J; Henkel L; Langjahr M; Mayer C; Nordbeck P; Wanner C; Sommer C
J Intern Med; 2018 Oct; 284(4):427-438. PubMed ID: 29974530
[TBL] [Abstract][Full Text] [Related]
40. Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy.
Vedder AC; Cox-Brinkman J; Hollak CE; Linthorst GE; Groener JE; Helmond MT; Scheij S; Aerts JM
Mol Genet Metab; 2006 Nov; 89(3):239-44. PubMed ID: 16765076
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]