132 related articles for article (PubMed ID: 17804462)
1. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
Terryn W; Poppe B; Wuyts B; Claes K; Maes B; Verbeelen D; Vanholder R; De Boeck K; Lameire N; De Paepe A; De Schoenmakere G
Nephrol Dial Transplant; 2008 Jan; 23(1):294-300. PubMed ID: 17804462
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
4. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
Merta M; Reiterova J; Ledvinova J; Poupetová H; Dobrovolny R; Rysavá R; Maixnerová D; Bultas J; Motán J; Slivkova J; Sobotova D; Smrzova J; Tesar V
Nephrol Dial Transplant; 2007 Jan; 22(1):179-86. PubMed ID: 17040996
[TBL] [Abstract][Full Text] [Related]
5. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
6. Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Garzuly F; Maródi L; Erdös M; Grubits J; Varga Z; Gelpi E; Rohonyi B; Mázló M; Molnár A; Budka H
Brain; 2005 Sep; 128(Pt 9):2078-83. PubMed ID: 15947062
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.
Nishino T; Obata Y; Furusu A; Hirose M; Shinzato K; Hattori K; Nakamura K; Matsumoto T; Endo F; Kohno S
Ren Fail; 2012; 34(5):566-70. PubMed ID: 22563919
[TBL] [Abstract][Full Text] [Related]
8. Fabry disease in patients with end-stage renal failure: the potential benefits of screening.
Bekri S; Enica A; Ghafari T; Plaza G; Champenois I; Choukroun G; Unwin R; Jaeger P
Nephron Clin Pract; 2005; 101(1):c33-8. PubMed ID: 15886492
[TBL] [Abstract][Full Text] [Related]
9. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
Monserrat L; Gimeno-Blanes JR; Marín F; Hermida-Prieto M; García-Honrubia A; Pérez I; Fernández X; de Nicolas R; de la Morena G; Payá E; Yagüe J; Egido J
J Am Coll Cardiol; 2007 Dec; 50(25):2399-403. PubMed ID: 18154965
[TBL] [Abstract][Full Text] [Related]
10. A successful approach for the detection of Fabry patients in Argentina.
Rozenfeld PA; Tarabuso A; Ebner R; Ramallo G; Fossati CA
Clin Genet; 2006 Apr; 69(4):344-8. PubMed ID: 16630168
[TBL] [Abstract][Full Text] [Related]
11. Association of renal ectopia with Fabry's disease in 3 patients.
Rákóczi E; Tóth B; Görögh S; Erdos M; Sümegi J; Maródi L
J Urol; 2009 Apr; 181(4):1949-54. PubMed ID: 19237168
[TBL] [Abstract][Full Text] [Related]
12. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
13. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.
Porsch DB; Nunes AC; Milani V; Rossato LB; Mattos CB; Tsao M; Netto C; Burin M; Pereira F; Matte U; Giugliani R; Barros EJ
Ren Fail; 2008; 30(9):825-30. PubMed ID: 18925518
[TBL] [Abstract][Full Text] [Related]
14. [Fabry disease: data from four families].
Slee PH; van Boven LJ; Slee DS
Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2412-5. PubMed ID: 11145098
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
[TBL] [Abstract][Full Text] [Related]
17. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.
Terryn W; Deschoenmakere G; De Keyser J; Meersseman W; Van Biesen W; Wuyts B; Hemelsoet D; Pascale H; De Backer J; De Paepe A; Poppe B; Vanholder R
Int J Cardiol; 2013 Sep; 167(6):2555-60. PubMed ID: 22805550
[TBL] [Abstract][Full Text] [Related]
18. Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.
Silva CA; Barreto FC; Dos Reis MA; Moura Junior JA; Cruz CM
Nephron; 2016; 134(4):221-230. PubMed ID: 27576502
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
